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Study ID | Variant ID | Variant Region type | Variant Call type | Sampleset ID | Method | Analysis ID | Validation | Variant samples | Subject phenotype | Clinical Interpretation | Assembly | Accession | Chr | Outer-Start | Start | Inner-Start | Inner-End | End | Outer-End | Placement Type | Remap Score |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
nstd224 | nssv18285671 | deletion | SNP array | Probe signal intensity | No | OSC2771 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 903175 | Remapped | 1 | ||||||||
nstd224 | nssv18290417 | duplication | SNP array | Probe signal intensity | No | OSC3669 | GRCh38.p12 | NC_000001.11 | 1 | 634038 | 963407 | Remapped | 1 | ||||||||
nstd224 | nssv18297014 | duplication | SNP array | Probe signal intensity | No | OSC4929 | GRCh38.p12 | NC_000001.11 | 1 | 634038 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18297637 | duplication | SNP array | Probe signal intensity | No | OSC4881 | GRCh38.p12 | NC_000001.11 | 1 | 634038 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18297780 | duplication | SNP array | Probe signal intensity | No | OSC4992 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 903175 | Remapped | 1 | ||||||||
nstd224 | nssv18297855 | duplication | SNP array | Probe signal intensity | No | OSC5045 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 903175 | Remapped | 1 | ||||||||
nstd224 | nssv18297871 | duplication | SNP array | Probe signal intensity | No | OSC5055 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18297929 | duplication | SNP array | Probe signal intensity | No | OSC5093 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18297951 | duplication | SNP array | Probe signal intensity | No | OSC4937 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18297977 | duplication | SNP array | Probe signal intensity | No | OSC4955 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18298066 | duplication | SNP array | Probe signal intensity | No | OSC5034 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18298074 | duplication | SNP array | Probe signal intensity | No | OSC5041 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18298114 | duplication | SNP array | Probe signal intensity | No | OSC5064 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18298219 | duplication | SNP array | Probe signal intensity | No | OSC5139 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 903175 | Remapped | 1 | ||||||||
nstd224 | nssv18298283 | duplication | SNP array | Probe signal intensity | No | OSC4933 | GRCh38.p12 | NC_000001.11 | 1 | 634038 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18298306 | duplication | SNP array | Probe signal intensity | No | OSC4952 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18298506 | duplication | SNP array | Probe signal intensity | No | OSC5103 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 903175 | Remapped | 1 | ||||||||
nstd224 | nssv18298616 | duplication | SNP array | Probe signal intensity | No | OSC4946 | GRCh38.p12 | NC_000001.11 | 1 | 634038 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18298893 | duplication | SNP array | Probe signal intensity | No | OSC5128 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18298975 | duplication | SNP array | Probe signal intensity | No | OSC5184 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 903175 | Remapped | 1 | ||||||||
nstd224 | nssv18299035 | duplication | SNP array | Probe signal intensity | No | OSC5230 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18299087 | duplication | SNP array | Probe signal intensity | No | OSC5275 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18299128 | duplication | SNP array | Probe signal intensity | No | OSC5308 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18299209 | duplication | SNP array | Probe signal intensity | No | OSC5183 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18299242 | duplication | SNP array | Probe signal intensity | No | OSC5204 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 903175 | Remapped | 1 | ||||||||
nstd224 | nssv18299246 | duplication | SNP array | Probe signal intensity | No | OSC5207 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 903175 | Remapped | 1 | ||||||||
nstd224 | nssv18299259 | duplication | SNP array | Probe signal intensity | No | OSC5218 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18299274 | duplication | SNP array | Probe signal intensity | No | OSC5231 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18299279 | duplication | SNP array | Probe signal intensity | No | OSC5232 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18299323 | duplication | SNP array | Probe signal intensity | No | OSC5269 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18299439 | duplication | SNP array | Probe signal intensity | No | OSC5365 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 903175 | Remapped | 1 | ||||||||
nstd224 | nssv18299472 | duplication | SNP array | Probe signal intensity | No | OSC5398 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18299489 | duplication | SNP array | Probe signal intensity | No | OSC5149 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18299568 | duplication | SNP array | Probe signal intensity | No | OSC5198 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 903175 | Remapped | 1 | ||||||||
nstd224 | nssv18299579 | duplication | SNP array | Probe signal intensity | No | OSC5203 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18299647 | duplication | SNP array | Probe signal intensity | No | OSC5251 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18299663 | duplication | SNP array | Probe signal intensity | No | OSC5264 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18299683 | duplication | SNP array | Probe signal intensity | No | OSC5274 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18299775 | duplication | SNP array | Probe signal intensity | No | OSC5360 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18299926 | duplication | SNP array | Probe signal intensity | No | OSC5242 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18299928 | duplication | SNP array | Probe signal intensity | No | OSC5243 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18299988 | duplication | SNP array | Probe signal intensity | No | OSC5289 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18300010 | duplication | SNP array | Probe signal intensity | No | OSC5309 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18300051 | duplication | SNP array | Probe signal intensity | No | OSC5343 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18300073 | duplication | SNP array | Probe signal intensity | No | OSC5351 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18300099 | duplication | SNP array | Probe signal intensity | No | OSC5369 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 903175 | Remapped | 1 | ||||||||
nstd224 | nssv18300207 | duplication | SNP array | Probe signal intensity | No | OSC5432 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18300332 | duplication | SNP array | Probe signal intensity | No | OSC5535 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18300481 | duplication | SNP array | Probe signal intensity | No | OSC5455 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18300517 | duplication | SNP array | Probe signal intensity | No | OSC5485 | GRCh38.p12 | NC_000001.11 | 1 | 634038 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18300543 | duplication | SNP array | Probe signal intensity | No | OSC5504 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18300802 | duplication | SNP array | Probe signal intensity | No | OSC5437 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18300815 | duplication | SNP array | Probe signal intensity | No | OSC5445 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18300909 | duplication | SNP array | Probe signal intensity | No | OSC5513 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 903175 | Remapped | 1 | ||||||||
nstd224 | nssv18300947 | duplication | SNP array | Probe signal intensity | No | OSC5538 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18301010 | duplication | SNP array | Probe signal intensity | No | OSC5591 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 903175 | Remapped | 1 | ||||||||
nstd224 | nssv18301037 | duplication | SNP array | Probe signal intensity | No | OSC5382 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18301084 | duplication | SNP array | Probe signal intensity | No | OSC5427 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18301094 | duplication | SNP array | Probe signal intensity | No | OSC5435 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18301118 | duplication | SNP array | Probe signal intensity | No | OSC5460 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18301284 | duplication | SNP array | Probe signal intensity | No | OSC5577 | GRCh38.p12 | NC_000001.11 | 1 | 634038 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18301329 | duplication | SNP array | Probe signal intensity | No | OSC5611 | GRCh38.p12 | NC_000001.11 | 1 | 634038 | 903175 | Remapped | 1 | ||||||||
nstd224 | nssv18301356 | duplication | SNP array | Probe signal intensity | No | OSC5602 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18301694 | duplication | SNP array | Probe signal intensity | No | OSC5672 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18301725 | duplication | SNP array | Probe signal intensity | No | OSC5697 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18302046 | duplication | SNP array | Probe signal intensity | No | OSC5664 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18302062 | duplication | SNP array | Probe signal intensity | No | OSC5675 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18302077 | duplication | SNP array | Probe signal intensity | No | OSC5685 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18302105 | duplication | SNP array | Probe signal intensity | No | OSC5712 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18302165 | duplication | SNP array | Probe signal intensity | No | OSC5753 | GRCh38.p12 | NC_000001.11 | 1 | 792461 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18302331 | duplication | SNP array | Probe signal intensity | No | OSC5678 | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18303266 | duplication | SNP array | Probe signal intensity | No | OSC5898 | GRCh38.p12 | NC_000001.11 | 1 | 632287 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18306595 | duplication | SNP array | Probe signal intensity | No | OSC6556 | GRCh38.p12 | NC_000001.11 | 1 | 792461 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18306634 | duplication | SNP array | Probe signal intensity | No | OSC6585 | GRCh38.p12 | NC_000001.11 | 1 | 792461 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18309673 | duplication | SNP array | Probe signal intensity | No | OSC6956 | GRCh38.p12 | NC_000001.11 | 1 | 792461 | 916010 | Remapped | 1 | ||||||||
nstd224 | nssv18309812 | duplication | SNP array | Probe signal intensity | No | OSC7053 | GRCh38.p12 | NC_000001.11 | 1 | 792461 | 905373 | Remapped | 1 | ||||||||
nstd224 | nssv18312064 | duplication | SNP array | Probe signal intensity | No | OSC7526 | GRCh38.p12 | NC_000001.11 | 1 | 792461 | 916010 | Remapped | 1 | ||||||||
nstd224 | nssv18312428 | duplication | SNP array | Probe signal intensity | No | OSC7598 | GRCh38.p12 | NC_000001.11 | 1 | 792461 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18312806 | duplication | SNP array | Probe signal intensity | No | OSC7566 | GRCh38.p12 | NC_000001.11 | 1 | 632287 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18313125 | duplication | SNP array | Probe signal intensity | No | OSC7640 | GRCh38.p12 | NC_000001.11 | 1 | 792461 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18313238 | duplication | SNP array | Probe signal intensity | No | OSC7726 | GRCh38.p12 | NC_000001.11 | 1 | 792461 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18313599 | duplication | SNP array | Probe signal intensity | No | OSC7795 | GRCh38.p12 | NC_000001.11 | 1 | 792461 | 916010 | Remapped | 1 | ||||||||
nstd224 | nssv18314184 | duplication | SNP array | Probe signal intensity | No | OSC7887 | GRCh38.p12 | NC_000001.11 | 1 | 792461 | 916010 | Remapped | 1 | ||||||||
nstd224 | nssv18314507 | duplication | SNP array | Probe signal intensity | No | OSC7941 | GRCh38.p12 | NC_000001.11 | 1 | 792461 | 905373 | Remapped | 1 | ||||||||
nstd224 | nssv18316325 | duplication | SNP array | Probe signal intensity | No | OSC8342 | GRCh38.p12 | NC_000001.11 | 1 | 792461 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18316823 | duplication | SNP array | Probe signal intensity | No | OSC8266 | GRCh38.p12 | NC_000001.11 | 1 | 792461 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18317123 | duplication | SNP array | Probe signal intensity | No | OSC8303 | GRCh38.p12 | NC_000001.11 | 1 | 792461 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18317255 | duplication | SNP array | Probe signal intensity | No | OSC8373 | GRCh38.p12 | NC_000001.11 | 1 | 792461 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18317659 | duplication | SNP array | Probe signal intensity | No | OSC8365 | GRCh38.p12 | NC_000001.11 | 1 | 792461 | 911428 | Remapped | 1 | ||||||||
nstd224 | nssv18318236 | deletion | SNP array | Probe signal intensity | No | OSC8584 | GRCh38.p12 | NC_000001.11 | 1 | 792461 | 916010 | Remapped | 1 | ||||||||
nstd224 | nssv18318886 | duplication | SNP array | Probe signal intensity | No | OSC8827 | GRCh38.p12 | NC_000001.11 | 1 | 792461 | 911428 | Remapped | 1 | ||||||||
nstd224 | nsv6626266 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 632287 | 911428 | Remapped | 1 | |||||||||||
nstd224 | nsv6626267 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 634038 | 903175 | Remapped | 1 | |||||||||||
nstd224 | nsv6626284 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 911428 | Remapped | 1 | |||||||||||
nstd224 | nsv6626382 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 634038 | 911428 | Remapped | 1 | |||||||||||
nstd224 | nsv6626383 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 634038 | 963407 | Remapped | 1 | |||||||||||
nstd224 | nsv6626388 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 792461 | 905373 | Remapped | 1 | |||||||||||
nstd224 | nsv6626466 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 792461 | 911428 | Remapped | 1 | |||||||||||
nstd224 | nsv6626467 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 792461 | 916010 | Remapped | 1 | |||||||||||
nstd224 | nsv6626470 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 817186 | 903175 | Remapped | 1 |