nsv6628234
- 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:1,067,263
- 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: 4091 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 3743 SVs from 109 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6628234 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 89,142,846 | 90,210,108 |
| nsv6628234 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 89,442,329 | 90,248,974 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18282082 | deletion | OSC2146 | SNP array | Probe signal intensity | 8 |
| nssv18286726 | deletion | OSC3023 | SNP array | Probe signal intensity | 5 |
| nssv18286931 | deletion | OSC3021 | SNP array | Probe signal intensity | 11 |
| nssv18287604 | deletion | OSC3009 | SNP array | Probe signal intensity | nssv18286702, nssv18287602, nssv18287603 |
| nssv18287855 | deletion | OSC3159 | SNP array | Probe signal intensity | 7 |
| nssv18287965 | deletion | OSC3232 | SNP array | Probe signal intensity | nssv18288845, nssv18288846, nssv18288847 |
| nssv18288623 | deletion | OSC3293 | SNP array | Probe signal intensity | 5 |
| nssv18289190 | deletion | OSC3450 | SNP array | Probe signal intensity | nssv18290054 |
| nssv18290748 | deletion | OSC3736 | SNP array | Probe signal intensity | 8 |
| nssv18290772 | deletion | OSC3755 | SNP array | Probe signal intensity | 8 |
| nssv18291389 | deletion | OSC3734 | SNP array | Probe signal intensity | 10 |
| nssv18292472 | deletion | OSC3832 | SNP array | Probe signal intensity | 9 |
| nssv18294226 | deletion | OSC4414 | SNP array | Probe signal intensity | 6 |
| nssv18294242 | deletion | OSC4424 | SNP array | Probe signal intensity | nssv18294241, nssv18295140 |
| nssv18294801 | duplication | OSC4422 | SNP array | Probe signal intensity | 7 |
| nssv18294849 | deletion | OSC4464 | SNP array | Probe signal intensity | nssv18294537, nssv18294848, nssv18295221 |
| nssv18295328 | deletion | OSC4541 | SNP array | Probe signal intensity | 6 |
| nssv18295494 | duplication | OSC4481 | SNP array | Probe signal intensity | 6 |
| nssv18295511 | deletion | OSC4490 | SNP array | Probe signal intensity | 5 |
| nssv18296243 | deletion | OSC4556 | SNP array | Probe signal intensity | 7 |
| nssv18300654 | deletion | OSC5589 | SNP array | Probe signal intensity | nssv18301008, nssv18301336 |
| nssv18301020 | deletion | OSC5598 | SNP array | Probe signal intensity | 8 |
| nssv18301292 | deletion | OSC5583 | SNP array | Probe signal intensity | 5 |
| nssv18301386 | deletion | OSC5624 | SNP array | Probe signal intensity | 5 |
| nssv18301989 | deletion | OSC5627 | SNP array | Probe signal intensity | 7 |
| nssv18323040 | deletion | OSC1417 | SNP array | Probe signal intensity | 12 |
| nssv18323173 | deletion | OSC1506 | SNP array | Probe signal intensity | 6 |
| nssv18323393 | deletion | OSC1467 | SNP array | Probe signal intensity | 8 |
| nssv18323536 | deletion | OSC1573 | SNP array | Probe signal intensity | 10 |
| nssv18323932 | deletion | OSC1596 | SNP array | Probe signal intensity | 7 |
| nssv18324092 | deletion | OSC1707 | SNP array | Probe signal intensity | 13 |
| nssv18324451 | deletion | OSC1562 | SNP array | Probe signal intensity | 9 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18282082 | Remapped | Pass | NC_000002.12:g.(?_ 89142846)_(9021010 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,142,846 | 90,210,108 |
| nssv18286726 | Remapped | Pass | NC_000002.12:g.(?_ 89142846)_(9021010 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,142,846 | 90,210,108 |
| nssv18286931 | Remapped | Pass | NC_000002.12:g.(?_ 89142846)_(9021010 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,142,846 | 90,210,108 |
| nssv18287604 | Remapped | Pass | NC_000002.12:g.(?_ 89142846)_(9021010 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,142,846 | 90,210,108 |
| nssv18287855 | Remapped | Pass | NC_000002.12:g.(?_ 89142846)_(9021010 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,142,846 | 90,210,108 |
| nssv18287965 | Remapped | Pass | NC_000002.12:g.(?_ 89142846)_(9021010 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,142,846 | 90,210,108 |
| nssv18288623 | Remapped | Pass | NC_000002.12:g.(?_ 89142846)_(9021010 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,142,846 | 90,210,108 |
| nssv18289190 | Remapped | Pass | NC_000002.12:g.(?_ 89142846)_(9021010 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,142,846 | 90,210,108 |
| nssv18290748 | Remapped | Pass | NC_000002.12:g.(?_ 89142846)_(9021010 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,142,846 | 90,210,108 |
| nssv18290772 | Remapped | Pass | NC_000002.12:g.(?_ 89142846)_(9021010 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,142,846 | 90,210,108 |
| nssv18291389 | Remapped | Pass | NC_000002.12:g.(?_ 89142846)_(9021010 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,142,846 | 90,210,108 |
| nssv18292472 | Remapped | Pass | NC_000002.12:g.(?_ 89142846)_(9021010 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,142,846 | 90,210,108 |
| nssv18294226 | Remapped | Pass | NC_000002.12:g.(?_ 89142846)_(9021010 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,142,846 | 90,210,108 |
| nssv18294242 | Remapped | Pass | NC_000002.12:g.(?_ 89142846)_(9021010 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,142,846 | 90,210,108 |
| nssv18294801 | Remapped | Pass | NC_000002.12:g.(?_ 89142846)_(9021010 8_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,142,846 | 90,210,108 |
| nssv18294849 | Remapped | Pass | NC_000002.12:g.(?_ 89142846)_(9021010 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,142,846 | 90,210,108 |
| nssv18295328 | Remapped | Pass | NC_000002.12:g.(?_ 89142846)_(9021010 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,142,846 | 90,210,108 |
| nssv18295494 | Remapped | Pass | NC_000002.12:g.(?_ 89142846)_(9021010 8_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,142,846 | 90,210,108 |
| nssv18295511 | Remapped | Pass | NC_000002.12:g.(?_ 89142846)_(9021010 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,142,846 | 90,210,108 |
| nssv18296243 | Remapped | Pass | NC_000002.12:g.(?_ 89142846)_(9021010 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,142,846 | 90,210,108 |
| nssv18300654 | Remapped | Pass | NC_000002.12:g.(?_ 89142846)_(9021010 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,142,846 | 90,210,108 |
| nssv18301020 | Remapped | Pass | NC_000002.12:g.(?_ 89142846)_(9021010 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,142,846 | 90,210,108 |
| nssv18301292 | Remapped | Pass | NC_000002.12:g.(?_ 89142846)_(9021010 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,142,846 | 90,210,108 |
| nssv18301386 | Remapped | Pass | NC_000002.12:g.(?_ 89142846)_(9021010 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,142,846 | 90,210,108 |
| nssv18301989 | Remapped | Pass | NC_000002.12:g.(?_ 89142846)_(9021010 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,142,846 | 90,210,108 |
| nssv18323040 | Remapped | Pass | NC_000002.12:g.(?_ 89142846)_(9021010 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,142,846 | 90,210,108 |
| nssv18323173 | Remapped | Pass | NC_000002.12:g.(?_ 89142846)_(9021010 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,142,846 | 90,210,108 |
| nssv18323393 | Remapped | Pass | NC_000002.12:g.(?_ 89142846)_(9021010 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,142,846 | 90,210,108 |
| nssv18323536 | Remapped | Pass | NC_000002.12:g.(?_ 89142846)_(9021010 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,142,846 | 90,210,108 |
| nssv18323932 | Remapped | Pass | NC_000002.12:g.(?_ 89142846)_(9021010 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,142,846 | 90,210,108 |
| nssv18324092 | Remapped | Pass | NC_000002.12:g.(?_ 89142846)_(9021010 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,142,846 | 90,210,108 |
| nssv18324451 | Remapped | Pass | NC_000002.12:g.(?_ 89142846)_(9021010 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,142,846 | 90,210,108 |
| nssv18282082 | Submitted genomic | NC_000002.11:g.(?_ 89442329)_(9024897 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,442,329 | 90,248,974 | ||
| nssv18286726 | Submitted genomic | NC_000002.11:g.(?_ 89442329)_(9024897 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,442,329 | 90,248,974 | ||
| nssv18286931 | Submitted genomic | NC_000002.11:g.(?_ 89442329)_(9024897 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,442,329 | 90,248,974 | ||
| nssv18287604 | Submitted genomic | NC_000002.11:g.(?_ 89442329)_(9024897 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,442,329 | 90,248,974 | ||
| nssv18287855 | Submitted genomic | NC_000002.11:g.(?_ 89442329)_(9024897 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,442,329 | 90,248,974 | ||
| nssv18287965 | Submitted genomic | NC_000002.11:g.(?_ 89442329)_(9024897 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,442,329 | 90,248,974 | ||
| nssv18288623 | Submitted genomic | NC_000002.11:g.(?_ 89442329)_(9024897 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,442,329 | 90,248,974 | ||
| nssv18289190 | Submitted genomic | NC_000002.11:g.(?_ 89442329)_(9024897 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,442,329 | 90,248,974 | ||
| nssv18290748 | Submitted genomic | NC_000002.11:g.(?_ 89442329)_(9024897 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,442,329 | 90,248,974 | ||
| nssv18290772 | Submitted genomic | NC_000002.11:g.(?_ 89442329)_(9024897 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,442,329 | 90,248,974 | ||
| nssv18291389 | Submitted genomic | NC_000002.11:g.(?_ 89442329)_(9024897 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,442,329 | 90,248,974 | ||
| nssv18292472 | Submitted genomic | NC_000002.11:g.(?_ 89442329)_(9024897 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,442,329 | 90,248,974 | ||
| nssv18294226 | Submitted genomic | NC_000002.11:g.(?_ 89442329)_(9024897 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,442,329 | 90,248,974 | ||
| nssv18294242 | Submitted genomic | NC_000002.11:g.(?_ 89442329)_(9024897 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,442,329 | 90,248,974 | ||
| nssv18294801 | Submitted genomic | NC_000002.11:g.(?_ 89442329)_(9024897 4_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,442,329 | 90,248,974 | ||
| nssv18294849 | Submitted genomic | NC_000002.11:g.(?_ 89442329)_(9024897 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,442,329 | 90,248,974 | ||
| nssv18295328 | Submitted genomic | NC_000002.11:g.(?_ 89442329)_(9024897 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,442,329 | 90,248,974 | ||
| nssv18295494 | Submitted genomic | NC_000002.11:g.(?_ 89442329)_(9024897 4_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,442,329 | 90,248,974 | ||
| nssv18295511 | Submitted genomic | NC_000002.11:g.(?_ 89442329)_(9024897 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,442,329 | 90,248,974 | ||
| nssv18296243 | Submitted genomic | NC_000002.11:g.(?_ 89442329)_(9024897 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,442,329 | 90,248,974 | ||
| nssv18300654 | Submitted genomic | NC_000002.11:g.(?_ 89442329)_(9024897 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,442,329 | 90,248,974 | ||
| nssv18301020 | Submitted genomic | NC_000002.11:g.(?_ 89442329)_(9024897 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,442,329 | 90,248,974 | ||
| nssv18301292 | Submitted genomic | NC_000002.11:g.(?_ 89442329)_(9024897 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,442,329 | 90,248,974 | ||
| nssv18301386 | Submitted genomic | NC_000002.11:g.(?_ 89442329)_(9024897 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,442,329 | 90,248,974 | ||
| nssv18301989 | Submitted genomic | NC_000002.11:g.(?_ 89442329)_(9024897 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,442,329 | 90,248,974 | ||
| nssv18323040 | Submitted genomic | NC_000002.11:g.(?_ 89442329)_(9024897 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,442,329 | 90,248,974 | ||
| nssv18323173 | Submitted genomic | NC_000002.11:g.(?_ 89442329)_(9024897 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,442,329 | 90,248,974 | ||
| nssv18323393 | Submitted genomic | NC_000002.11:g.(?_ 89442329)_(9024897 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,442,329 | 90,248,974 | ||
| nssv18323536 | Submitted genomic | NC_000002.11:g.(?_ 89442329)_(9024897 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,442,329 | 90,248,974 | ||
| nssv18323932 | Submitted genomic | NC_000002.11:g.(?_ 89442329)_(9024897 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,442,329 | 90,248,974 | ||
| nssv18324092 | Submitted genomic | NC_000002.11:g.(?_ 89442329)_(9024897 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,442,329 | 90,248,974 | ||
| nssv18324451 | Submitted genomic | NC_000002.11:g.(?_ 89442329)_(9024897 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,442,329 | 90,248,974 |