nsv6625642
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:60,182
- 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: 351 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 364 SVs from 62 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6625642 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 151,365,227 | 151,425,408 |
nsv6625642 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 151,337,703 | 151,397,884 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18302832 | duplication | OSC6012 | SNP array | Probe signal intensity | 9 |
nssv18303264 | duplication | OSC5894 | SNP array | Probe signal intensity | 20 |
nssv18304590 | duplication | OSC6193 | SNP array | Probe signal intensity | 10 |
nssv18312347 | duplication | OSC7532 | SNP array | Probe signal intensity | 13 |
nssv18316403 | duplication | OSC8389 | SNP array | Probe signal intensity | 11 |
nssv18320186 | duplication | OSC8827 | SNP array | Probe signal intensity | 11 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18302832 | Remapped | Perfect | NC_000001.11:g.(?_ 151365227)_(151425 408_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 151,365,227 | 151,425,408 |
nssv18303264 | Remapped | Perfect | NC_000001.11:g.(?_ 151365227)_(151425 408_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 151,365,227 | 151,425,408 |
nssv18304590 | Remapped | Perfect | NC_000001.11:g.(?_ 151365227)_(151425 408_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 151,365,227 | 151,425,408 |
nssv18312347 | Remapped | Perfect | NC_000001.11:g.(?_ 151365227)_(151425 408_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 151,365,227 | 151,425,408 |
nssv18316403 | Remapped | Perfect | NC_000001.11:g.(?_ 151365227)_(151425 408_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 151,365,227 | 151,425,408 |
nssv18320186 | Remapped | Perfect | NC_000001.11:g.(?_ 151365227)_(151425 408_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 151,365,227 | 151,425,408 |
nssv18302832 | Submitted genomic | NC_000001.10:g.(?_ 151337703)_(151397 884_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 151,337,703 | 151,397,884 | ||
nssv18303264 | Submitted genomic | NC_000001.10:g.(?_ 151337703)_(151397 884_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 151,337,703 | 151,397,884 | ||
nssv18304590 | Submitted genomic | NC_000001.10:g.(?_ 151337703)_(151397 884_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 151,337,703 | 151,397,884 | ||
nssv18312347 | Submitted genomic | NC_000001.10:g.(?_ 151337703)_(151397 884_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 151,337,703 | 151,397,884 | ||
nssv18316403 | Submitted genomic | NC_000001.10:g.(?_ 151337703)_(151397 884_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 151,337,703 | 151,397,884 | ||
nssv18320186 | Submitted genomic | NC_000001.10:g.(?_ 151337703)_(151397 884_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 151,337,703 | 151,397,884 |