nsv6627960
- 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:171,095
- 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: 533 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 533 SVs from 53 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6627960 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 52,179,922 | 52,351,016 |
nsv6627960 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 52,407,060 | 52,578,154 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18290503 | deletion | OSC3737 | SNP array | Probe signal intensity | 11 |
nssv18291533 | deletion | OSC3807 | SNP array | Probe signal intensity | 7 |
nssv18291729 | deletion | OSC3946 | SNP array | Probe signal intensity | 7 |
nssv18311142 | deletion | OSC0771 | SNP array | Probe signal intensity | 5 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18290503 | Remapped | Perfect | NC_000002.12:g.(?_ 52179922)_(5235101 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 52,179,922 | 52,351,016 |
nssv18291533 | Remapped | Perfect | NC_000002.12:g.(?_ 52179922)_(5235101 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 52,179,922 | 52,351,016 |
nssv18291729 | Remapped | Perfect | NC_000002.12:g.(?_ 52179922)_(5235101 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 52,179,922 | 52,351,016 |
nssv18311142 | Remapped | Perfect | NC_000002.12:g.(?_ 52179922)_(5235101 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 52,179,922 | 52,351,016 |
nssv18290503 | Submitted genomic | NC_000002.11:g.(?_ 52407060)_(5257815 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 52,407,060 | 52,578,154 | ||
nssv18291533 | Submitted genomic | NC_000002.11:g.(?_ 52407060)_(5257815 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 52,407,060 | 52,578,154 | ||
nssv18291729 | Submitted genomic | NC_000002.11:g.(?_ 52407060)_(5257815 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 52,407,060 | 52,578,154 | ||
nssv18311142 | Submitted genomic | NC_000002.11:g.(?_ 52407060)_(5257815 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 52,407,060 | 52,578,154 |