nsv3923636
- 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:12,911,038
- Description:GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)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: 32491 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 32492 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 8546 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923636 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 38,514,177 | 51,425,214 |
| nsv3923636 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 39,088,314 | 51,999,350 |
| nsv3923636 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 37,986,314 | 50,897,351 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137764 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000140788.5, VCV000152159.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137764 | Submitted genomic | NC_000013.11:g.(?_ 38514177)_(5142521 4_?)del | GRCh38 (hg38) | NC_000013.11 | Chr13 | 38,514,177 | 51,425,214 |
| nssv15137764 | Submitted genomic | NC_000013.10:g.(?_ 39088314)_(5199935 0_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 39,088,314 | 51,999,350 |
| nssv15137764 | Submitted genomic | NC_000013.9:g.(?_3 7986314)_(50897351 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 37,986,314 | 50,897,351 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137764 | GRCh37: NC_000013.10:g.(?_39088314)_(51999350_?)del, GRCh38: NC_000013.11:g.(?_38514177)_(51425214_?)del, NCBI36: NC_000013.9:g.(?_37986314)_(50897351_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000140788.5, VCV000152159.2 | 1 |