nsv6628175
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:330,519
- 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: 2089 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 2109 SVs from 100 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6628175 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 89,879,590 | 90,210,108 |
| nsv6628175 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 89,918,400 | 90,248,974 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18283114 | duplication | OSC2444 | SNP array | Probe signal intensity | 6 |
| nssv18285128 | duplication | OSC2547 | SNP array | Probe signal intensity | 9 |
| nssv18286872 | deletion | OSC0306 | SNP array | Probe signal intensity | nssv18287227, nssv18286662 |
| nssv18289566 | deletion | OSC3560 | SNP array | Probe signal intensity | 9 |
| nssv18289929 | deletion | OSC3571 | SNP array | Probe signal intensity | nssv18289588, nssv18290273, nssv18289930 |
| nssv18290588 | deletion | OSC3617 | SNP array | Probe signal intensity | 5 |
| nssv18290960 | deletion | OSC3636 | SNP array | Probe signal intensity | 7 |
| nssv18297590 | duplication | OSC4871 | SNP array | Probe signal intensity | 7 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18283114 | Remapped | Good | NC_000002.12:g.(?_ 89879590)_(9021010 8_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,879,590 | 90,210,108 |
| nssv18285128 | Remapped | Good | NC_000002.12:g.(?_ 89879590)_(9021010 8_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,879,590 | 90,210,108 |
| nssv18286872 | Remapped | Good | NC_000002.12:g.(?_ 89879590)_(9021010 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,879,590 | 90,210,108 |
| nssv18289566 | Remapped | Good | NC_000002.12:g.(?_ 89879590)_(9021010 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,879,590 | 90,210,108 |
| nssv18289929 | Remapped | Good | NC_000002.12:g.(?_ 89879590)_(9021010 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,879,590 | 90,210,108 |
| nssv18290588 | Remapped | Good | NC_000002.12:g.(?_ 89879590)_(9021010 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,879,590 | 90,210,108 |
| nssv18290960 | Remapped | Good | NC_000002.12:g.(?_ 89879590)_(9021010 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,879,590 | 90,210,108 |
| nssv18297590 | Remapped | Good | NC_000002.12:g.(?_ 89879590)_(9021010 8_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,879,590 | 90,210,108 |
| nssv18283114 | Submitted genomic | NC_000002.11:g.(?_ 89918400)_(9024897 4_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,918,400 | 90,248,974 | ||
| nssv18285128 | Submitted genomic | NC_000002.11:g.(?_ 89918400)_(9024897 4_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,918,400 | 90,248,974 | ||
| nssv18286872 | Submitted genomic | NC_000002.11:g.(?_ 89918400)_(9024897 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,918,400 | 90,248,974 | ||
| nssv18289566 | Submitted genomic | NC_000002.11:g.(?_ 89918400)_(9024897 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,918,400 | 90,248,974 | ||
| nssv18289929 | Submitted genomic | NC_000002.11:g.(?_ 89918400)_(9024897 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,918,400 | 90,248,974 | ||
| nssv18290588 | Submitted genomic | NC_000002.11:g.(?_ 89918400)_(9024897 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,918,400 | 90,248,974 | ||
| nssv18290960 | Submitted genomic | NC_000002.11:g.(?_ 89918400)_(9024897 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,918,400 | 90,248,974 | ||
| nssv18297590 | Submitted genomic | NC_000002.11:g.(?_ 89918400)_(9024897 4_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,918,400 | 90,248,974 |