nsv3920229
- 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:138,922
- Description:GRCh38/hg38 15q15.1(chr15:40581118-40720039)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: 533 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 533 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 128 SVs from 13 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920229 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 40,581,118 | 40,720,039 |
| nsv3920229 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 40,873,316 | 41,012,237 |
| nsv3920229 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 38,660,608 | 38,799,529 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138939 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000141927.4, VCV000153596.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138939 | Submitted genomic | NC_000015.10:g.(?_ 40581118)_(4072003 9_?)del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 40,581,118 | 40,720,039 |
| nssv15138939 | Submitted genomic | NC_000015.9:g.(?_4 0873316)_(41012237 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 40,873,316 | 41,012,237 |
| nssv15138939 | Submitted genomic | NC_000015.8:g.(?_3 8660608)_(38799529 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 38,660,608 | 38,799,529 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138939 | GRCh37: NC_000015.9:g.(?_40873316)_(41012237_?)del, GRCh38: NC_000015.10:g.(?_40581118)_(40720039_?)del, NCBI36: NC_000015.8:g.(?_38660608)_(38799529_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000141927.4, VCV000153596.2 | 1 |