nsv6636861
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:931,614
- Description:GRCh37/hg19 5q31.2(chr5:137893096-138868605)x3 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2379 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 2371 SVs from 75 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636861 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 138,557,407 | 139,489,020 |
| nsv6636861 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 137,893,096 | 138,868,605 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329139 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002475593.1, VCV001809220.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329139 | Remapped | Good | NC_000005.10:g.(?_ 138557407)_(139489 020_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 138,557,407 | 139,489,020 |
| nssv18329139 | Submitted genomic | NC_000005.9:g.(?_1 37893096)_(1388686 05_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 137,893,096 | 138,868,605 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329139 | GRCh37: NC_000005.9:g.(?_137893096)_(138868605_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002475593.1, VCV001809220.1 | 3 |