nsv6622597
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:147,670
- 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: 1149 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 1154 SVs from 81 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6622597 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 19,839,089 | 19,986,758 |
nsv6622597 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 20,044,342 | 20,192,011 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18302668 | deletion | OSC5893 | SNP array | Probe signal intensity | 12 |
nssv18311202 | deletion | OSC7380 | SNP array | Probe signal intensity | 5 |
nssv18313127 | duplication | OSC7644 | SNP array | Probe signal intensity | 8 |
nssv18313558 | duplication | OSC7768 | SNP array | Probe signal intensity | 10 |
nssv18314687 | deletion | OSC7905 | SNP array | Probe signal intensity | 10 |
nssv18315054 | deletion | OSC8131 | SNP array | Probe signal intensity | 15 |
nssv18315380 | deletion | OSC8084 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv18302668 | Remapped | Perfect | NC_000015.10:g.(?_ 19839089)_(1998675 8_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 19,839,089 | 19,986,758 |
nssv18311202 | Remapped | Perfect | NC_000015.10:g.(?_ 19839089)_(1998675 8_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 19,839,089 | 19,986,758 |
nssv18313127 | Remapped | Perfect | NC_000015.10:g.(?_ 19839089)_(1998675 8_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 19,839,089 | 19,986,758 |
nssv18313558 | Remapped | Perfect | NC_000015.10:g.(?_ 19839089)_(1998675 8_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 19,839,089 | 19,986,758 |
nssv18314687 | Remapped | Perfect | NC_000015.10:g.(?_ 19839089)_(1998675 8_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 19,839,089 | 19,986,758 |
nssv18315054 | Remapped | Perfect | NC_000015.10:g.(?_ 19839089)_(1998675 8_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 19,839,089 | 19,986,758 |
nssv18315380 | Remapped | Perfect | NC_000015.10:g.(?_ 19839089)_(1998675 8_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 19,839,089 | 19,986,758 |
nssv18302668 | Submitted genomic | NC_000015.9:g.(?_2 0044342)_(20192011 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 20,044,342 | 20,192,011 | ||
nssv18311202 | Submitted genomic | NC_000015.9:g.(?_2 0044342)_(20192011 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 20,044,342 | 20,192,011 | ||
nssv18313127 | Submitted genomic | NC_000015.9:g.(?_2 0044342)_(20192011 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 20,044,342 | 20,192,011 | ||
nssv18313558 | Submitted genomic | NC_000015.9:g.(?_2 0044342)_(20192011 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 20,044,342 | 20,192,011 | ||
nssv18314687 | Submitted genomic | NC_000015.9:g.(?_2 0044342)_(20192011 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 20,044,342 | 20,192,011 | ||
nssv18315054 | Submitted genomic | NC_000015.9:g.(?_2 0044342)_(20192011 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 20,044,342 | 20,192,011 | ||
nssv18315380 | Submitted genomic | NC_000015.9:g.(?_2 0044342)_(20192011 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 20,044,342 | 20,192,011 |