nsv6632017
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:10
- Validation:Not tested
- Clinical Assertions: No
- Region Size:209,913
- 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: 1506 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 1504 SVs from 107 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6632017 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 76,800,642 | 77,010,554 |
| nsv6632017 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 76,429,959 | 76,639,871 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18281803 | duplication | OSC2167 | SNP array | Probe signal intensity | 8 |
| nssv18282204 | duplication | OSC2235 | SNP array | Probe signal intensity | 6 |
| nssv18295212 | duplication | OSC4456 | SNP array | Probe signal intensity | 6 |
| nssv18295229 | duplication | OSC4468 | SNP array | Probe signal intensity | 5 |
| nssv18295708 | duplication | OSC4646 | SNP array | Probe signal intensity | 6 |
| nssv18295776 | duplication | OSC4700 | SNP array | Probe signal intensity | nssv18295773, nssv18295774, nssv18295775 |
| nssv18295889 | duplication | OSC4542 | SNP array | Probe signal intensity | 8 |
| nssv18320668 | duplication | OSC1053 | SNP array | Probe signal intensity | nssv18320667, nssv18320419, nssv18320045 |
| nssv18321306 | duplication | OSC1290 | SNP array | Probe signal intensity | 7 |
| nssv18324228 | duplication | OSC1605 | SNP array | Probe signal intensity | 6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18281803 | Remapped | Perfect | NC_000007.14:g.(?_ 76800642)_(7701055 4_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,800,642 | 77,010,554 |
| nssv18282204 | Remapped | Perfect | NC_000007.14:g.(?_ 76800642)_(7701055 4_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,800,642 | 77,010,554 |
| nssv18295212 | Remapped | Perfect | NC_000007.14:g.(?_ 76800642)_(7701055 4_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,800,642 | 77,010,554 |
| nssv18295229 | Remapped | Perfect | NC_000007.14:g.(?_ 76800642)_(7701055 4_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,800,642 | 77,010,554 |
| nssv18295708 | Remapped | Perfect | NC_000007.14:g.(?_ 76800642)_(7701055 4_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,800,642 | 77,010,554 |
| nssv18295776 | Remapped | Perfect | NC_000007.14:g.(?_ 76800642)_(7701055 4_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,800,642 | 77,010,554 |
| nssv18295889 | Remapped | Perfect | NC_000007.14:g.(?_ 76800642)_(7701055 4_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,800,642 | 77,010,554 |
| nssv18320668 | Remapped | Perfect | NC_000007.14:g.(?_ 76800642)_(7701055 4_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,800,642 | 77,010,554 |
| nssv18321306 | Remapped | Perfect | NC_000007.14:g.(?_ 76800642)_(7701055 4_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,800,642 | 77,010,554 |
| nssv18324228 | Remapped | Perfect | NC_000007.14:g.(?_ 76800642)_(7701055 4_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,800,642 | 77,010,554 |
| nssv18281803 | Submitted genomic | NC_000007.13:g.(?_ 76429959)_(7663987 1_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,429,959 | 76,639,871 | ||
| nssv18282204 | Submitted genomic | NC_000007.13:g.(?_ 76429959)_(7663987 1_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,429,959 | 76,639,871 | ||
| nssv18295212 | Submitted genomic | NC_000007.13:g.(?_ 76429959)_(7663987 1_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,429,959 | 76,639,871 | ||
| nssv18295229 | Submitted genomic | NC_000007.13:g.(?_ 76429959)_(7663987 1_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,429,959 | 76,639,871 | ||
| nssv18295708 | Submitted genomic | NC_000007.13:g.(?_ 76429959)_(7663987 1_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,429,959 | 76,639,871 | ||
| nssv18295776 | Submitted genomic | NC_000007.13:g.(?_ 76429959)_(7663987 1_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,429,959 | 76,639,871 | ||
| nssv18295889 | Submitted genomic | NC_000007.13:g.(?_ 76429959)_(7663987 1_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,429,959 | 76,639,871 | ||
| nssv18320668 | Submitted genomic | NC_000007.13:g.(?_ 76429959)_(7663987 1_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,429,959 | 76,639,871 | ||
| nssv18321306 | Submitted genomic | NC_000007.13:g.(?_ 76429959)_(7663987 1_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,429,959 | 76,639,871 | ||
| nssv18324228 | Submitted genomic | NC_000007.13:g.(?_ 76429959)_(7663987 1_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,429,959 | 76,639,871 |