nsv6632284
- 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:99,973
- 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: 550 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 550 SVs from 75 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6632284 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 9,765,863 | 9,865,835 |
nsv6632284 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 9,805,492 | 9,905,464 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18297866 | duplication | OSC5053 | SNP array | Probe signal intensity | 6 |
nssv18299684 | duplication | OSC5275 | SNP array | Probe signal intensity | nssv18299336, nssv18299087, nssv18299335 |
nssv18300683 | duplication | OSC5607 | SNP array | Probe signal intensity | nssv18301963, nssv18301962, nssv18300682 |
nssv18300786 | duplication | OSC5428 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv18297866 | Remapped | Perfect | NC_000007.14:g.(?_ 9765863)_(9865835_ ?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 9,765,863 | 9,865,835 |
nssv18299684 | Remapped | Perfect | NC_000007.14:g.(?_ 9765863)_(9865835_ ?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 9,765,863 | 9,865,835 |
nssv18300683 | Remapped | Perfect | NC_000007.14:g.(?_ 9765863)_(9865835_ ?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 9,765,863 | 9,865,835 |
nssv18300786 | Remapped | Perfect | NC_000007.14:g.(?_ 9765863)_(9865835_ ?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 9,765,863 | 9,865,835 |
nssv18297866 | Submitted genomic | NC_000007.13:g.(?_ 9805492)_(9905464_ ?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 9,805,492 | 9,905,464 | ||
nssv18299684 | Submitted genomic | NC_000007.13:g.(?_ 9805492)_(9905464_ ?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 9,805,492 | 9,905,464 | ||
nssv18300683 | Submitted genomic | NC_000007.13:g.(?_ 9805492)_(9905464_ ?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 9,805,492 | 9,905,464 | ||
nssv18300786 | Submitted genomic | NC_000007.13:g.(?_ 9805492)_(9905464_ ?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 9,805,492 | 9,905,464 |