nsv3924864
- 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:1,648,629
- Description:GRCh38/hg38 11p15.5-15.4(chr11:1975511-3624139)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: 4926 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 4927 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 1479 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924864 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 1,975,511 | 3,624,139 |
| nsv3924864 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 1,996,741 | 3,645,369 |
| nsv3924864 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 1,953,317 | 3,601,945 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161545 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000137066.5, VCV000147964.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161545 | Submitted genomic | NC_000011.10:g.(?_ 1975511)_(3624139_ ?)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 1,975,511 | 3,624,139 |
| nssv15161545 | Submitted genomic | NC_000011.9:g.(?_1 996741)_(3645369_? )del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,996,741 | 3,645,369 |
| nssv15161545 | Submitted genomic | NC_000011.8:g.(?_1 953317)_(3601945_? )del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 1,953,317 | 3,601,945 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161545 | GRCh37: NC_000011.9:g.(?_1996741)_(3645369_?)del, GRCh38: NC_000011.10:g.(?_1975511)_(3624139_?)del, NCBI36: NC_000011.8:g.(?_1953317)_(3601945_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000137066.5, VCV000147964.3 | 1 |