nsv7093619
- Organism: Homo sapiens
- Study:nstd228 (Fan et al. 2022)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:19,448,496
- Description:Confirmed by karyotype studies to be part of an unbalanced translocation
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: 71371 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 71381 SVs from 140 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv7093619 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 170,587,823 | 170,587,823 | 190,036,318 |
| nsv7093619 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 171,508,974 | 171,509,635 | 190,957,473 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| nssv18786564 | copy number loss | 1 | SNP array | SNP genotyping analysis | 1 | Heterozygous | nssv18786565 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv18786564 | Remapped | Perfect | NC_000004.12:g.(17 0587823_170587823) _(190036318_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 170,587,823 | 170,587,823 | 190,036,318 |
| nssv18786564 | Submitted genomic | NC_000004.11:g.(17 1508974_171509635) _(190957473_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 171,508,974 | 171,509,635 | 190,957,473 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv18786564 | 2 | 1 | Karyotyping | Manual observation | Pass |