nsv4367791
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:254,878
- 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: 2621 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 2621 SVs from 112 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4367791 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 25,260,271 | 25,515,148 |
nsv4367791 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 25,656,238 | 25,911,115 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15624080 | copy number gain | 1-0291-001 | SNP array | Genotyping | 12 |
nssv15653057 | copy number gain | 2-1620-003 | SNP array | Genotyping | 26 |
nssv15684425 | copy number gain | OCD114-S_1686 | SNP array | Genotyping | 18 |
nssv15687436 | copy number gain | OCD160-0625-4932-3 | SNP array | Genotyping | 19 |
nssv15692127 | copy number gain | OCD64-BF-1422 | SNP array | Genotyping | 17 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15624080 | Remapped | Perfect | NC_000022.11:g.(?_ 25260271)_(2551514 8_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 25,260,271 | 25,515,148 |
nssv15653057 | Remapped | Perfect | NC_000022.11:g.(?_ 25260271)_(2551514 8_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 25,260,271 | 25,515,148 |
nssv15684425 | Remapped | Perfect | NC_000022.11:g.(?_ 25260271)_(2551514 8_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 25,260,271 | 25,515,148 |
nssv15687436 | Remapped | Perfect | NC_000022.11:g.(?_ 25260271)_(2551514 8_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 25,260,271 | 25,515,148 |
nssv15692127 | Remapped | Perfect | NC_000022.11:g.(?_ 25260271)_(2551514 8_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 25,260,271 | 25,515,148 |
nssv15624080 | Submitted genomic | NC_000022.10:g.(?_ 25656238)_(2591111 5_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 25,656,238 | 25,911,115 | ||
nssv15653057 | Submitted genomic | NC_000022.10:g.(?_ 25656238)_(2591111 5_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 25,656,238 | 25,911,115 | ||
nssv15684425 | Submitted genomic | NC_000022.10:g.(?_ 25656238)_(2591111 5_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 25,656,238 | 25,911,115 | ||
nssv15687436 | Submitted genomic | NC_000022.10:g.(?_ 25656238)_(2591111 5_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 25,656,238 | 25,911,115 | ||
nssv15692127 | Submitted genomic | NC_000022.10:g.(?_ 25656238)_(2591111 5_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 25,656,238 | 25,911,115 |