nsv4367366
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:28,561
- Publication(s):Zarrei et al. 2019
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: 498 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 498 SVs from 74 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4367366 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 4,160,655 | 4,189,215 |
nsv4367366 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 4,208,245 | 4,236,805 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15640080 | copy number loss | 14-0103-002 | SNP array | Genotyping | 23 |
nssv15644187 | copy number loss | 16-1003-001 | SNP array | Genotyping | 22 |
nssv15661130 | copy number loss | 4-0079-003 | SNP array | Genotyping | 18 |
nssv15686304 | copy number loss | OCD31-S_896571 | SNP array | Genotyping | 20 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15640080 | Remapped | Perfect | NC_000002.12:g.(?_ 4160655)_(4189215_ ?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 4,160,655 | 4,189,215 |
nssv15644187 | Remapped | Perfect | NC_000002.12:g.(?_ 4160655)_(4189215_ ?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 4,160,655 | 4,189,215 |
nssv15661130 | Remapped | Perfect | NC_000002.12:g.(?_ 4160655)_(4189215_ ?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 4,160,655 | 4,189,215 |
nssv15686304 | Remapped | Perfect | NC_000002.12:g.(?_ 4160655)_(4189215_ ?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 4,160,655 | 4,189,215 |
nssv15640080 | Submitted genomic | NC_000002.11:g.(?_ 4208245)_(4236805_ ?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 4,208,245 | 4,236,805 | ||
nssv15644187 | Submitted genomic | NC_000002.11:g.(?_ 4208245)_(4236805_ ?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 4,208,245 | 4,236,805 | ||
nssv15661130 | Submitted genomic | NC_000002.11:g.(?_ 4208245)_(4236805_ ?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 4,208,245 | 4,236,805 | ||
nssv15686304 | Submitted genomic | NC_000002.11:g.(?_ 4208245)_(4236805_ ?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 4,208,245 | 4,236,805 |