nsv6630860
- 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:54,542
- 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: 276 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 276 SVs from 56 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6630860 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 64,416,373 | 64,470,914 |
nsv6630860 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 63,712,200 | 63,766,741 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18302915 | deletion | OSC5901 | SNP array | Probe signal intensity | 7 |
nssv18303063 | deletion | OSC6000 | SNP array | Probe signal intensity | 11 |
nssv18306775 | deletion | OSC6667 | SNP array | Probe signal intensity | 5 |
nssv18313703 | deletion | OSC7856 | SNP array | Probe signal intensity | 7 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18302915 | Remapped | Perfect | NC_000005.10:g.(?_ 64416373)_(6447091 4_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 64,416,373 | 64,470,914 |
nssv18303063 | Remapped | Perfect | NC_000005.10:g.(?_ 64416373)_(6447091 4_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 64,416,373 | 64,470,914 |
nssv18306775 | Remapped | Perfect | NC_000005.10:g.(?_ 64416373)_(6447091 4_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 64,416,373 | 64,470,914 |
nssv18313703 | Remapped | Perfect | NC_000005.10:g.(?_ 64416373)_(6447091 4_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 64,416,373 | 64,470,914 |
nssv18302915 | Submitted genomic | NC_000005.9:g.(?_6 3712200)_(63766741 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 63,712,200 | 63,766,741 | ||
nssv18303063 | Submitted genomic | NC_000005.9:g.(?_6 3712200)_(63766741 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 63,712,200 | 63,766,741 | ||
nssv18306775 | Submitted genomic | NC_000005.9:g.(?_6 3712200)_(63766741 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 63,712,200 | 63,766,741 | ||
nssv18313703 | Submitted genomic | NC_000005.9:g.(?_6 3712200)_(63766741 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 63,712,200 | 63,766,741 |