nsv6620185
- 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:17,291
- 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: 554 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 554 SVs from 60 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6620185 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 133,201,591 | 133,218,881 |
nsv6620185 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 135,015,095 | 135,032,385 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18281646 | duplication | OSC2048 | SNP array | Probe signal intensity | 5 |
nssv18285598 | deletion | OSC2878 | SNP array | Probe signal intensity | 10 |
nssv18286357 | duplication | OSC2769 | SNP array | Probe signal intensity | nssv18286041, nssv18285443, nssv18285444 |
nssv18286540 | duplication | OSC2904 | SNP array | Probe signal intensity | 5 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18281646 | Remapped | Perfect | NC_000010.11:g.(?_ 133201591)_(133218 881_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,201,591 | 133,218,881 |
nssv18285598 | Remapped | Perfect | NC_000010.11:g.(?_ 133201591)_(133218 881_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,201,591 | 133,218,881 |
nssv18286357 | Remapped | Perfect | NC_000010.11:g.(?_ 133201591)_(133218 881_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,201,591 | 133,218,881 |
nssv18286540 | Remapped | Perfect | NC_000010.11:g.(?_ 133201591)_(133218 881_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,201,591 | 133,218,881 |
nssv18281646 | Submitted genomic | NC_000010.10:g.(?_ 135015095)_(135032 385_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 135,015,095 | 135,032,385 | ||
nssv18285598 | Submitted genomic | NC_000010.10:g.(?_ 135015095)_(135032 385_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 135,015,095 | 135,032,385 | ||
nssv18286357 | Submitted genomic | NC_000010.10:g.(?_ 135015095)_(135032 385_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 135,015,095 | 135,032,385 | ||
nssv18286540 | Submitted genomic | NC_000010.10:g.(?_ 135015095)_(135032 385_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 135,015,095 | 135,032,385 |