nsv6625674
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:40,847
- 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: 1107 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 1107 SVs from 88 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6625674 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 16,885,121 | 16,925,967 |
nsv6625674 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 17,211,616 | 17,252,462 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18312189 | duplication | OSC7423 | SNP array | Probe signal intensity | 17 |
nssv18315010 | duplication | OSC8104 | SNP array | Probe signal intensity | 7 |
nssv18316854 | duplication | OSC8287 | SNP array | Probe signal intensity | 9 |
nssv18319691 | duplication | OSC8751 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv18312189 | Remapped | Perfect | NC_000001.11:g.(?_ 16885121)_(1692596 7_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,885,121 | 16,925,967 |
nssv18315010 | Remapped | Perfect | NC_000001.11:g.(?_ 16885121)_(1692596 7_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,885,121 | 16,925,967 |
nssv18316854 | Remapped | Perfect | NC_000001.11:g.(?_ 16885121)_(1692596 7_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,885,121 | 16,925,967 |
nssv18319691 | Remapped | Perfect | NC_000001.11:g.(?_ 16885121)_(1692596 7_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,885,121 | 16,925,967 |
nssv18312189 | Submitted genomic | NC_000001.10:g.(?_ 17211616)_(1725246 2_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,211,616 | 17,252,462 | ||
nssv18315010 | Submitted genomic | NC_000001.10:g.(?_ 17211616)_(1725246 2_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,211,616 | 17,252,462 | ||
nssv18316854 | Submitted genomic | NC_000001.10:g.(?_ 17211616)_(1725246 2_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,211,616 | 17,252,462 | ||
nssv18319691 | Submitted genomic | NC_000001.10:g.(?_ 17211616)_(1725246 2_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,211,616 | 17,252,462 |