nsv6626036
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:17,157
- 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: 215 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 215 SVs from 42 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6626036 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 59,541,113 | 59,558,269 |
nsv6626036 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 60,006,785 | 60,023,941 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18281716 | deletion | OSC0218 | SNP array | Probe signal intensity | 5 |
nssv18282593 | deletion | OSC2061 | SNP array | Probe signal intensity | 6 |
nssv18289274 | deletion | OSC3517 | SNP array | Probe signal intensity | nssv18289849, nssv18290157 |
nssv18292956 | deletion | OSC4155 | SNP array | Probe signal intensity | 5 |
nssv18295483 | deletion | OSC4475 | SNP array | Probe signal intensity | nssv18295242, nssv18295792, nssv18295793 |
nssv18307465 | deletion | OSC0697 | SNP array | Probe signal intensity | 7 |
nssv18320889 | deletion | OSC0995 | SNP array | Probe signal intensity | nssv18319979, nssv18319980, nssv18320890 |
nssv18324474 | deletion | OSC1575 | SNP array | Probe signal intensity | 10 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18281716 | Remapped | Perfect | NC_000001.11:g.(?_ 59541113)_(5955826 9_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 59,541,113 | 59,558,269 |
nssv18282593 | Remapped | Perfect | NC_000001.11:g.(?_ 59541113)_(5955826 9_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 59,541,113 | 59,558,269 |
nssv18289274 | Remapped | Perfect | NC_000001.11:g.(?_ 59541113)_(5955826 9_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 59,541,113 | 59,558,269 |
nssv18292956 | Remapped | Perfect | NC_000001.11:g.(?_ 59541113)_(5955826 9_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 59,541,113 | 59,558,269 |
nssv18295483 | Remapped | Perfect | NC_000001.11:g.(?_ 59541113)_(5955826 9_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 59,541,113 | 59,558,269 |
nssv18307465 | Remapped | Perfect | NC_000001.11:g.(?_ 59541113)_(5955826 9_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 59,541,113 | 59,558,269 |
nssv18320889 | Remapped | Perfect | NC_000001.11:g.(?_ 59541113)_(5955826 9_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 59,541,113 | 59,558,269 |
nssv18324474 | Remapped | Perfect | NC_000001.11:g.(?_ 59541113)_(5955826 9_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 59,541,113 | 59,558,269 |
nssv18281716 | Submitted genomic | NC_000001.10:g.(?_ 60006785)_(6002394 1_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 60,006,785 | 60,023,941 | ||
nssv18282593 | Submitted genomic | NC_000001.10:g.(?_ 60006785)_(6002394 1_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 60,006,785 | 60,023,941 | ||
nssv18289274 | Submitted genomic | NC_000001.10:g.(?_ 60006785)_(6002394 1_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 60,006,785 | 60,023,941 | ||
nssv18292956 | Submitted genomic | NC_000001.10:g.(?_ 60006785)_(6002394 1_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 60,006,785 | 60,023,941 | ||
nssv18295483 | Submitted genomic | NC_000001.10:g.(?_ 60006785)_(6002394 1_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 60,006,785 | 60,023,941 | ||
nssv18307465 | Submitted genomic | NC_000001.10:g.(?_ 60006785)_(6002394 1_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 60,006,785 | 60,023,941 | ||
nssv18320889 | Submitted genomic | NC_000001.10:g.(?_ 60006785)_(6002394 1_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 60,006,785 | 60,023,941 | ||
nssv18324474 | Submitted genomic | NC_000001.10:g.(?_ 60006785)_(6002394 1_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 60,006,785 | 60,023,941 |