nsv6631576
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:441,385
- 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: 1587 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 790 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 1586 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6631576 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 143,731,945 | 144,173,329 |
| nsv6631576 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_018654714.1 | Chr7|NW_01 8654714.1 | 276,264 | 589,656 |
| nsv6631576 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 143,429,038 | 143,870,422 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18293893 | duplication | OSC4183 | SNP array | Probe signal intensity | 8 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18293893 | Remapped | Pass | NW_018654714.1:g.( ?_276264)_(589656_ ?)dup | GRCh38.p12 | Second Pass | NW_018654714.1 | Chr7|NW_01 8654714.1 | 276,264 | 589,656 |
| nssv18293893 | Remapped | Perfect | NC_000007.14:g.(?_ 143731945)_(144173 329_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,731,945 | 144,173,329 |
| nssv18293893 | Submitted genomic | NC_000007.13:g.(?_ 143429038)_(143870 422_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 143,429,038 | 143,870,422 |