nsv3922320
- 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:1,112,451
- Description:GRCh38/hg38 15q21.1-21.2(chr15:49064333-50176783)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: 2446 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 2446 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 629 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922320 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 49,064,333 | 50,176,783 |
| nsv3922320 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 49,356,530 | 50,468,980 |
| nsv3922320 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 47,143,822 | 48,256,272 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137201 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000137613.6, VCV000148540.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137201 | Submitted genomic | NC_000015.10:g.(?_ 49064333)_(5017678 3_?)del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 49,064,333 | 50,176,783 |
| nssv15137201 | Submitted genomic | NC_000015.9:g.(?_4 9356530)_(50468980 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 49,356,530 | 50,468,980 |
| nssv15137201 | Submitted genomic | NC_000015.8:g.(?_4 7143822)_(48256272 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 47,143,822 | 48,256,272 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137201 | GRCh37: NC_000015.9:g.(?_49356530)_(50468980_?)del, GRCh38: NC_000015.10:g.(?_49064333)_(50176783_?)del, NCBI36: NC_000015.8:g.(?_47143822)_(48256272_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000137613.6, VCV000148540.2 | 1 |