nsv4370234
- 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:100,825
- 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: 1690 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 1690 SVs from 93 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4370234 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,670,995 |
nsv4370234 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 69,435,889 | 69,536,713 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15627543 | copy number gain | 1-0489-001 | SNP array | Genotyping | 21 |
nssv15648077 | copy number gain | 2-1342-002 | SNP array | Genotyping | 21 |
nssv15653451 | copy number gain | 2-1559-004 | SNP array | Genotyping | 18 |
nssv15657648 | copy number gain | 4-0039-003 | SNP array | Genotyping | 21 |
nssv15659746 | copy number gain | 4-0070-004 | SNP array | Genotyping | 21 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15627543 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6867099 5_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,670,995 |
nssv15648077 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6867099 5_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,670,995 |
nssv15653451 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6867099 5_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,670,995 |
nssv15657648 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6867099 5_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,670,995 |
nssv15659746 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6867099 5_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,670,995 |
nssv15627543 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6953671 3_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,536,713 | ||
nssv15648077 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6953671 3_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,536,713 | ||
nssv15653451 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6953671 3_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,536,713 | ||
nssv15657648 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6953671 3_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,536,713 | ||
nssv15659746 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6953671 3_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,536,713 |