nsv4368763
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:20,537
- 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: 166 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 166 SVs from 40 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4368763 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 28,191,133 | 28,211,669 |
nsv4368763 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 28,587,121 | 28,607,657 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15622596 | copy number loss | 1-0255-001 | SNP array | Genotyping | 28 |
nssv15648172 | copy number loss | 2-1235-001 | SNP array | Genotyping | 23 |
nssv15648213 | copy number loss | 2-1235-003 | SNP array | Genotyping | 16 |
nssv15648231 | copy number loss | 2-1235-004 | SNP array | Genotyping | 19 |
nssv15679258 | copy number loss | 205647 | SNP array | Genotyping | 22 |
nssv15694277 | copy number loss | OCD84-896822 | SNP array | Genotyping | 23 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15622596 | Remapped | Perfect | NC_000022.11:g.(?_ 28191133)_(2821166 9_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 28,191,133 | 28,211,669 |
nssv15648172 | Remapped | Perfect | NC_000022.11:g.(?_ 28191133)_(2821166 9_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 28,191,133 | 28,211,669 |
nssv15648213 | Remapped | Perfect | NC_000022.11:g.(?_ 28191133)_(2821166 9_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 28,191,133 | 28,211,669 |
nssv15648231 | Remapped | Perfect | NC_000022.11:g.(?_ 28191133)_(2821166 9_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 28,191,133 | 28,211,669 |
nssv15679258 | Remapped | Perfect | NC_000022.11:g.(?_ 28191133)_(2821166 9_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 28,191,133 | 28,211,669 |
nssv15694277 | Remapped | Perfect | NC_000022.11:g.(?_ 28191133)_(2821166 9_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 28,191,133 | 28,211,669 |
nssv15622596 | Submitted genomic | NC_000022.10:g.(?_ 28587121)_(2860765 7_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 28,587,121 | 28,607,657 | ||
nssv15648172 | Submitted genomic | NC_000022.10:g.(?_ 28587121)_(2860765 7_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 28,587,121 | 28,607,657 | ||
nssv15648213 | Submitted genomic | NC_000022.10:g.(?_ 28587121)_(2860765 7_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 28,587,121 | 28,607,657 | ||
nssv15648231 | Submitted genomic | NC_000022.10:g.(?_ 28587121)_(2860765 7_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 28,587,121 | 28,607,657 | ||
nssv15679258 | Submitted genomic | NC_000022.10:g.(?_ 28587121)_(2860765 7_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 28,587,121 | 28,607,657 | ||
nssv15694277 | Submitted genomic | NC_000022.10:g.(?_ 28587121)_(2860765 7_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 28,587,121 | 28,607,657 |