nsv3914316
- 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:1,609,807
- Description:GRCh38/hg38 11q23.3(chr11:116436425-118046231)x3 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: 4177 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 4177 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 951 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914316 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 116,436,425 | 118,046,231 |
| nsv3914316 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 116,307,142 | 117,916,946 |
| nsv3914316 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 115,812,352 | 117,422,156 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15119923 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053640.6, VCV000059774.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15119923 | Submitted genomic | NC_000011.10:g.(?_ 116436425)_(118046 231_?)dup | GRCh38 (hg38) | NC_000011.10 | Chr11 | 116,436,425 | 118,046,231 |
| nssv15119923 | Submitted genomic | NC_000011.9:g.(?_1 16307142)_(1179169 46_?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 116,307,142 | 117,916,946 |
| nssv15119923 | Submitted genomic | NC_000011.8:g.(?_1 15812352)_(1174221 56_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 115,812,352 | 117,422,156 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15119923 | GRCh37: NC_000011.9:g.(?_116307142)_(117916946_?)dup, GRCh38: NC_000011.10:g.(?_116436425)_(118046231_?)dup, NCBI36: NC_000011.8:g.(?_115812352)_(117422156_?)dup | copy number gain | maternal | See cases | Pathogenic | ClinVar | RCV000053640.6, VCV000059774.1 | 3 |