nsv3895487
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:64,848
- Description:
GRCh38/hg38 3p26.3(chr3:2475307-2540154)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 438 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 438 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 151 SVs from 15 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3895487 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 2,475,307 | 2,540,154 |
| nsv3895487 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 2,516,991 | 2,581,838 |
| nsv3895487 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 2,491,991 | 2,556,838 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121671 | copy number loss | Multiple | Multiple | See cases | Benign/Likely benign | ClinVar | RCV000135232.4, VCV000145906.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121671 | Submitted genomic | NC_000003.12:g.(?_ 2475307)_(2540154_ ?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 2,475,307 | 2,540,154 |
| nssv15121671 | Submitted genomic | NC_000003.11:g.(?_ 2516991)_(2581838_ ?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 2,516,991 | 2,581,838 |
| nssv15121671 | Submitted genomic | NC_000003.10:g.(?_ 2491991)_(2556838_ ?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 2,491,991 | 2,556,838 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121671 | GRCh37: NC_000003.11:g.(?_2516991)_(2581838_?)del, GRCh38: NC_000003.12:g.(?_2475307)_(2540154_?)del, NCBI36: NC_000003.10:g.(?_2491991)_(2556838_?)del | copy number loss | not provided | See cases | Benign/Likely benign | ClinVar | RCV000135232.4, VCV000145906.1 | 1 |