nsv3922934
- 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:11,457,010
- Description:GRCh38/hg38 13q33.1-34(chr13:102883322-114340331)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: 40437 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 40221 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 9741 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922934 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 102,883,322 | 114,340,331 |
| nsv3922934 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 103,535,672 | 115,085,141 |
| nsv3922934 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 102,333,673 | 114,123,908 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134584 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000137823.6, VCV000148757.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134584 | Submitted genomic | NC_000013.11:g.(?_ 102883322)_(114340 331_?)del | GRCh38 (hg38) | NC_000013.11 | Chr13 | 102,883,322 | 114,340,331 |
| nssv15134584 | Submitted genomic | NC_000013.10:g.(?_ 103535672)_(115085 141_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 103,535,672 | 115,085,141 |
| nssv15134584 | Submitted genomic | NC_000013.9:g.(?_1 02333673)_(1141239 08_?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 102,333,673 | 114,123,908 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134584 | GRCh37: NC_000013.10:g.(?_103535672)_(115085141_?)del, GRCh38: NC_000013.11:g.(?_102883322)_(114340331_?)del, NCBI36: NC_000013.9:g.(?_102333673)_(114123908_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000137823.6, VCV000148757.2 | 1 |