nsv6626279
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:32
- Validation:Not tested
- Clinical Assertions: No
- Region Size:78,117
- Publication(s):Zarrei et al. 2023
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 421 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 421 SVs from 70 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6626279 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 72,546,545 | 72,624,661 |
nsv6626279 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 73,012,228 | 73,090,344 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18281870 | deletion | OSC2217 | SNP array | Probe signal intensity | 6 |
nssv18282539 | deletion | OSC2247 | SNP array | Probe signal intensity | nssv18282834, nssv18282832, nssv18282833 |
nssv18282688 | deletion | OSC2135 | SNP array | Probe signal intensity | 5 |
nssv18282752 | deletion | OSC2176 | SNP array | Probe signal intensity | 9 |
nssv18282836 | deletion | OSC2252 | SNP array | Probe signal intensity | nssv18282835, nssv18282837, nssv18282838 |
nssv18284645 | deletion | OSC2693 | SNP array | Probe signal intensity | 7 |
nssv18284669 | deletion | OSC2717 | SNP array | Probe signal intensity | 6 |
nssv18284690 | deletion | OSC2728 | SNP array | Probe signal intensity | nssv18284687, nssv18284688, nssv18285399 |
nssv18285492 | deletion | OSC2803 | SNP array | Probe signal intensity | 7 |
nssv18286743 | deletion | OSC3035 | SNP array | Probe signal intensity | nssv18287304 |
nssv18287260 | deletion | OSC3005 | SNP array | Probe signal intensity | nssv18286698, nssv18287261 |
nssv18289891 | deletion | OSC3547 | SNP array | Probe signal intensity | nssv18290197, nssv18290198 |
nssv18291382 | deletion | OSC3731 | SNP array | Probe signal intensity | nssv18291383, nssv18291384, nssv18291385 |
nssv18292861 | deletion | OSC0421 | SNP array | Probe signal intensity | 5 |
nssv18293886 | deletion | OSC4175 | SNP array | Probe signal intensity | 6 |
nssv18299363 | deletion | OSC0543 | SNP array | Probe signal intensity | 5 |
nssv18300823 | deletion | OSC0558 | SNP array | Probe signal intensity | nssv18300827, nssv18300832 |
nssv18302467 | deletion | OSC5793 | SNP array | Probe signal intensity | 7 |
nssv18304521 | deletion | OSC6150 | SNP array | Probe signal intensity | 11 |
nssv18305365 | deletion | OSC6340 | SNP array | Probe signal intensity | 11 |
nssv18308251 | deletion | OSC0713 | SNP array | Probe signal intensity | 6 |
nssv18308368 | deletion | OSC6894 | SNP array | Probe signal intensity | 12 |
nssv18317773 | deletion | OSC8439 | SNP array | Probe signal intensity | 5 |
nssv18318949 | deletion | OSC8628 | SNP array | Probe signal intensity | 9 |
nssv18319655 | deletion | OSC8737 | SNP array | Probe signal intensity | 7 |
nssv18321826 | deletion | OSC1217 | SNP array | Probe signal intensity | 9 |
nssv18322040 | deletion | OSC1166 | SNP array | Probe signal intensity | 7 |
nssv18323438 | deletion | OSC1494 | SNP array | Probe signal intensity | 7 |
nssv18323827 | deletion | OSC1512 | SNP array | Probe signal intensity | 7 |
nssv18324468 | deletion | OSC1572 | SNP array | Probe signal intensity | 7 |
nssv18324782 | deletion | OSC1805 | SNP array | Probe signal intensity | 8 |
nssv18325037 | deletion | OSC0204 | SNP array | Probe signal intensity | 5 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18281870 | Remapped | Perfect | NC_000001.11:g.(?_ 72546545)_(7262466 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,546,545 | 72,624,661 |
nssv18282539 | Remapped | Perfect | NC_000001.11:g.(?_ 72546545)_(7262466 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,546,545 | 72,624,661 |
nssv18282688 | Remapped | Perfect | NC_000001.11:g.(?_ 72546545)_(7262466 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,546,545 | 72,624,661 |
nssv18282752 | Remapped | Perfect | NC_000001.11:g.(?_ 72546545)_(7262466 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,546,545 | 72,624,661 |
nssv18282836 | Remapped | Perfect | NC_000001.11:g.(?_ 72546545)_(7262466 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,546,545 | 72,624,661 |
nssv18284645 | Remapped | Perfect | NC_000001.11:g.(?_ 72546545)_(7262466 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,546,545 | 72,624,661 |
nssv18284669 | Remapped | Perfect | NC_000001.11:g.(?_ 72546545)_(7262466 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,546,545 | 72,624,661 |
nssv18284690 | Remapped | Perfect | NC_000001.11:g.(?_ 72546545)_(7262466 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,546,545 | 72,624,661 |
nssv18285492 | Remapped | Perfect | NC_000001.11:g.(?_ 72546545)_(7262466 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,546,545 | 72,624,661 |
nssv18286743 | Remapped | Perfect | NC_000001.11:g.(?_ 72546545)_(7262466 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,546,545 | 72,624,661 |
nssv18287260 | Remapped | Perfect | NC_000001.11:g.(?_ 72546545)_(7262466 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,546,545 | 72,624,661 |
nssv18289891 | Remapped | Perfect | NC_000001.11:g.(?_ 72546545)_(7262466 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,546,545 | 72,624,661 |
nssv18291382 | Remapped | Perfect | NC_000001.11:g.(?_ 72546545)_(7262466 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,546,545 | 72,624,661 |
nssv18292861 | Remapped | Perfect | NC_000001.11:g.(?_ 72546545)_(7262466 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,546,545 | 72,624,661 |
nssv18293886 | Remapped | Perfect | NC_000001.11:g.(?_ 72546545)_(7262466 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,546,545 | 72,624,661 |
nssv18299363 | Remapped | Perfect | NC_000001.11:g.(?_ 72546545)_(7262466 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,546,545 | 72,624,661 |
nssv18300823 | Remapped | Perfect | NC_000001.11:g.(?_ 72546545)_(7262466 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,546,545 | 72,624,661 |
nssv18302467 | Remapped | Perfect | NC_000001.11:g.(?_ 72546545)_(7262466 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,546,545 | 72,624,661 |
nssv18304521 | Remapped | Perfect | NC_000001.11:g.(?_ 72546545)_(7262466 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,546,545 | 72,624,661 |
nssv18305365 | Remapped | Perfect | NC_000001.11:g.(?_ 72546545)_(7262466 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,546,545 | 72,624,661 |
nssv18308251 | Remapped | Perfect | NC_000001.11:g.(?_ 72546545)_(7262466 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,546,545 | 72,624,661 |
nssv18308368 | Remapped | Perfect | NC_000001.11:g.(?_ 72546545)_(7262466 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,546,545 | 72,624,661 |
nssv18317773 | Remapped | Perfect | NC_000001.11:g.(?_ 72546545)_(7262466 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,546,545 | 72,624,661 |
nssv18318949 | Remapped | Perfect | NC_000001.11:g.(?_ 72546545)_(7262466 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,546,545 | 72,624,661 |
nssv18319655 | Remapped | Perfect | NC_000001.11:g.(?_ 72546545)_(7262466 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,546,545 | 72,624,661 |
nssv18321826 | Remapped | Perfect | NC_000001.11:g.(?_ 72546545)_(7262466 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,546,545 | 72,624,661 |
nssv18322040 | Remapped | Perfect | NC_000001.11:g.(?_ 72546545)_(7262466 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,546,545 | 72,624,661 |
nssv18323438 | Remapped | Perfect | NC_000001.11:g.(?_ 72546545)_(7262466 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,546,545 | 72,624,661 |
nssv18323827 | Remapped | Perfect | NC_000001.11:g.(?_ 72546545)_(7262466 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,546,545 | 72,624,661 |
nssv18324468 | Remapped | Perfect | NC_000001.11:g.(?_ 72546545)_(7262466 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,546,545 | 72,624,661 |
nssv18324782 | Remapped | Perfect | NC_000001.11:g.(?_ 72546545)_(7262466 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,546,545 | 72,624,661 |
nssv18325037 | Remapped | Perfect | NC_000001.11:g.(?_ 72546545)_(7262466 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,546,545 | 72,624,661 |
nssv18281870 | Submitted genomic | NC_000001.10:g.(?_ 73012228)_(7309034 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 73,012,228 | 73,090,344 | ||
nssv18282539 | Submitted genomic | NC_000001.10:g.(?_ 73012228)_(7309034 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 73,012,228 | 73,090,344 | ||
nssv18282688 | Submitted genomic | NC_000001.10:g.(?_ 73012228)_(7309034 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 73,012,228 | 73,090,344 | ||
nssv18282752 | Submitted genomic | NC_000001.10:g.(?_ 73012228)_(7309034 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 73,012,228 | 73,090,344 | ||
nssv18282836 | Submitted genomic | NC_000001.10:g.(?_ 73012228)_(7309034 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 73,012,228 | 73,090,344 | ||
nssv18284645 | Submitted genomic | NC_000001.10:g.(?_ 73012228)_(7309034 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 73,012,228 | 73,090,344 | ||
nssv18284669 | Submitted genomic | NC_000001.10:g.(?_ 73012228)_(7309034 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 73,012,228 | 73,090,344 | ||
nssv18284690 | Submitted genomic | NC_000001.10:g.(?_ 73012228)_(7309034 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 73,012,228 | 73,090,344 | ||
nssv18285492 | Submitted genomic | NC_000001.10:g.(?_ 73012228)_(7309034 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 73,012,228 | 73,090,344 | ||
nssv18286743 | Submitted genomic | NC_000001.10:g.(?_ 73012228)_(7309034 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 73,012,228 | 73,090,344 | ||
nssv18287260 | Submitted genomic | NC_000001.10:g.(?_ 73012228)_(7309034 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 73,012,228 | 73,090,344 | ||
nssv18289891 | Submitted genomic | NC_000001.10:g.(?_ 73012228)_(7309034 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 73,012,228 | 73,090,344 | ||
nssv18291382 | Submitted genomic | NC_000001.10:g.(?_ 73012228)_(7309034 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 73,012,228 | 73,090,344 | ||
nssv18292861 | Submitted genomic | NC_000001.10:g.(?_ 73012228)_(7309034 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 73,012,228 | 73,090,344 | ||
nssv18293886 | Submitted genomic | NC_000001.10:g.(?_ 73012228)_(7309034 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 73,012,228 | 73,090,344 | ||
nssv18299363 | Submitted genomic | NC_000001.10:g.(?_ 73012228)_(7309034 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 73,012,228 | 73,090,344 | ||
nssv18300823 | Submitted genomic | NC_000001.10:g.(?_ 73012228)_(7309034 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 73,012,228 | 73,090,344 | ||
nssv18302467 | Submitted genomic | NC_000001.10:g.(?_ 73012228)_(7309034 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 73,012,228 | 73,090,344 | ||
nssv18304521 | Submitted genomic | NC_000001.10:g.(?_ 73012228)_(7309034 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 73,012,228 | 73,090,344 | ||
nssv18305365 | Submitted genomic | NC_000001.10:g.(?_ 73012228)_(7309034 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 73,012,228 | 73,090,344 | ||
nssv18308251 | Submitted genomic | NC_000001.10:g.(?_ 73012228)_(7309034 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 73,012,228 | 73,090,344 | ||
nssv18308368 | Submitted genomic | NC_000001.10:g.(?_ 73012228)_(7309034 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 73,012,228 | 73,090,344 | ||
nssv18317773 | Submitted genomic | NC_000001.10:g.(?_ 73012228)_(7309034 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 73,012,228 | 73,090,344 | ||
nssv18318949 | Submitted genomic | NC_000001.10:g.(?_ 73012228)_(7309034 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 73,012,228 | 73,090,344 | ||
nssv18319655 | Submitted genomic | NC_000001.10:g.(?_ 73012228)_(7309034 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 73,012,228 | 73,090,344 | ||
nssv18321826 | Submitted genomic | NC_000001.10:g.(?_ 73012228)_(7309034 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 73,012,228 | 73,090,344 | ||
nssv18322040 | Submitted genomic | NC_000001.10:g.(?_ 73012228)_(7309034 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 73,012,228 | 73,090,344 | ||
nssv18323438 | Submitted genomic | NC_000001.10:g.(?_ 73012228)_(7309034 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 73,012,228 | 73,090,344 | ||
nssv18323827 | Submitted genomic | NC_000001.10:g.(?_ 73012228)_(7309034 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 73,012,228 | 73,090,344 | ||
nssv18324468 | Submitted genomic | NC_000001.10:g.(?_ 73012228)_(7309034 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 73,012,228 | 73,090,344 | ||
nssv18324782 | Submitted genomic | NC_000001.10:g.(?_ 73012228)_(7309034 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 73,012,228 | 73,090,344 | ||
nssv18325037 | Submitted genomic | NC_000001.10:g.(?_ 73012228)_(7309034 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 73,012,228 | 73,090,344 |