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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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
nstd40 | nssv3005780 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3005782 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1532381 | 1766586 | Remapped | 1.03102 | ||||||||
nstd40 | nssv3005836 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3005939 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1444061 | 1581170 | Remapped | 0.83693 | ||||||||
nstd40 | nssv3006040 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3006108 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3006208 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3006219 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1813471 | 1962015 | Remapped | 0.98702 | ||||||||
nstd40 | nssv3006292 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3006299 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3006300 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3006414 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3006425 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3006481 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1928433 | 2156947 | Remapped | 1.52719 | ||||||||
nstd40 | nssv3006551 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1444061 | 1581170 | Remapped | 0.83693 | ||||||||
nstd40 | nssv3006557 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3006670 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1823703 | 1950122 | Remapped | 1 | ||||||||
nstd40 | nssv3006782 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3006811 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3006906 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1146082 | 1322235 | Remapped | 1 | ||||||||
nstd40 | nssv3006952 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3007036 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3007075 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1532381 | 1766586 | Remapped | 1.03102 | ||||||||
nstd40 | nssv3007124 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 12039669 | 12199858 | Remapped | 1 | ||||||||
nstd40 | nssv3007224 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3007253 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3007360 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3007376 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3007397 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3007400 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 12039669 | 12199858 | Remapped | 1 | ||||||||
nstd40 | nssv3007518 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3007565 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 2225273 | 2418154 | Remapped | 1 | ||||||||
nstd40 | nssv3007631 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3007662 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3007804 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 12039669 | 12199858 | Remapped | 1 | ||||||||
nstd40 | nssv3007815 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3007819 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 12039669 | 12199858 | Remapped | 1 | ||||||||
nstd40 | nssv3007889 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 12039669 | 12199858 | Remapped | 1 | ||||||||
nstd40 | nssv3007917 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3007941 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3007956 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1532381 | 1766586 | Remapped | 1.03102 | ||||||||
nstd40 | nssv3007998 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 12039669 | 12199858 | Remapped | 1 | ||||||||
nstd40 | nssv3008000 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1444061 | 1581170 | Remapped | 0.83693 | ||||||||
nstd40 | nssv3008011 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 12039669 | 12199858 | Remapped | 1 | ||||||||
nstd40 | nssv3008088 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3008163 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3008183 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 12039669 | 12199858 | Remapped | 1 | ||||||||
nstd40 | nssv3008189 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 12039669 | 12199858 | Remapped | 1 | ||||||||
nstd40 | nssv3008222 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1823703 | 1950122 | Remapped | 1 | ||||||||
nstd40 | nssv3008338 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 12039669 | 12199858 | Remapped | 1 | ||||||||
nstd40 | nssv3008478 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 12039669 | 12199858 | Remapped | 1 | ||||||||
nstd40 | nssv3008557 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1928433 | 2156947 | Remapped | 1.52719 | ||||||||
nstd40 | nssv3008621 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3008688 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 2225273 | 2418154 | Remapped | 1 | ||||||||
nstd40 | nssv3008721 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 12039669 | 12199858 | Remapped | 1 | ||||||||
nstd40 | nssv3008746 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 2824136 | 3005987 | Remapped | 1.00001 | ||||||||
nstd40 | nssv3008780 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3008793 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1444061 | 1581170 | Remapped | 0.83693 | ||||||||
nstd40 | nssv3008806 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3008880 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 12039669 | 12199858 | Remapped | 1 | ||||||||
nstd40 | nssv3008900 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3008963 | copy number loss | BAC aCGH | Probe signal intensity | No | IMR149 | Intellectual Disability | Likely pathogenic | GRCh38.p12 | NC_000001.11 | 1 | 10001 | 7139940 | Remapped | 0.99027 | ||||||
nstd40 | nssv3008970 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 12039669 | 12199858 | Remapped | 1 | ||||||||
nstd40 | nssv3009001 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 12039669 | 12199858 | Remapped | 1 | ||||||||
nstd40 | nssv3009025 | copy number gain | BAC aCGH | Probe signal intensity | Yes | IMR332 | Intellectual Disability | Uncertain significance | GRCh38.p12 | NC_000001.11 | 1 | 10001 | 2368561 | Remapped | 1.02546 | ||||||
nstd40 | nssv3009059 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1557886 | 1716059 | Remapped | 1.04662 | ||||||||
nstd40 | nssv3009241 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 12039669 | 12199858 | Remapped | 1 | ||||||||
nstd40 | nssv3009525 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1557886 | 1716059 | Remapped | 1.04662 | ||||||||
nstd40 | nssv3009545 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 12039669 | 12199858 | Remapped | 1 | ||||||||
nstd40 | nssv3009618 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3009697 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3009737 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3009834 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 12039669 | 12199858 | Remapped | 1 | ||||||||
nstd40 | nssv3009904 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 2225273 | 2418154 | Remapped | 1 | ||||||||
nstd40 | nssv3009927 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 12039669 | 12199858 | Remapped | 1 | ||||||||
nstd40 | nssv3009955 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3010018 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3010037 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 12039669 | 12199858 | Remapped | 1 | ||||||||
nstd40 | nssv3010113 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 12039669 | 12199858 | Remapped | 1 | ||||||||
nstd40 | nssv3010194 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3010302 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3010441 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3010456 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3010463 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nssv3010492 | copy number loss | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1928433 | 2156947 | Remapped | 1.52719 | ||||||||
nstd40 | nssv3010498 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 1928433 | 2156947 | Remapped | 1.52719 | ||||||||
nstd40 | nssv3010608 | copy number gain | 2 | BAC aCGH | Probe signal intensity | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | ||||||||
nstd40 | nsv482227 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 10001 | 7139940 | Remapped | 0.99027 | |||||||||||
nstd40 | nsv482236 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 10001 | 2368561 | Remapped | 1.02546 | |||||||||||
nstd40 | nsv482309 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1813471 | 1962015 | Remapped | 0.98702 | |||||||||||
nstd40 | nsv482329 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1146082 | 1322235 | Remapped | 1 | |||||||||||
nstd40 | nsv482428 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1532381 | 1766586 | Remapped | 1.03102 | |||||||||||
nstd40 | nsv482534 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 12039669 | 12199858 | Remapped | 1 | |||||||||||
nstd40 | nsv482783 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2824136 | 3005987 | Remapped | 1.00001 | |||||||||||
nstd40 | nsv482789 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2225273 | 2418154 | Remapped | 1 | |||||||||||
nstd40 | nsv482817 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 27980 | 177346 | Remapped | 1 | |||||||||||
nstd40 | nsv482833 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1557886 | 1716059 | Remapped | 1.04662 | |||||||||||
nstd40 | nsv482834 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1928433 | 2156947 | Remapped | 1.52719 | |||||||||||
nstd40 | nsv482857 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1444061 | 1581170 | Remapped | 0.83693 | |||||||||||
nstd40 | nsv482885 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1823703 | 1950122 | Remapped | 1 |