nsv6631628
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:14,150
- 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: 274 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 274 SVs from 44 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6631628 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 2,525,485 | 2,539,634 |
nsv6631628 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 2,565,119 | 2,579,268 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18283544 | duplication | OSC2302 | SNP array | Probe signal intensity | 15 |
nssv18286041 | duplication | OSC2769 | SNP array | Probe signal intensity | nssv18285443, nssv18285444, nssv18286357 |
nssv18294568 | duplication | OSC4235 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv18283544 | Remapped | Perfect | NC_000007.14:g.(?_ 2525485)_(2539634_ ?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 2,525,485 | 2,539,634 |
nssv18286041 | Remapped | Perfect | NC_000007.14:g.(?_ 2525485)_(2539634_ ?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 2,525,485 | 2,539,634 |
nssv18294568 | Remapped | Perfect | NC_000007.14:g.(?_ 2525485)_(2539634_ ?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 2,525,485 | 2,539,634 |
nssv18283544 | Submitted genomic | NC_000007.13:g.(?_ 2565119)_(2579268_ ?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 2,565,119 | 2,579,268 | ||
nssv18286041 | Submitted genomic | NC_000007.13:g.(?_ 2565119)_(2579268_ ?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 2,565,119 | 2,579,268 | ||
nssv18294568 | Submitted genomic | NC_000007.13:g.(?_ 2565119)_(2579268_ ?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 2,565,119 | 2,579,268 |