nsv3916760
- 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:1,757,385
- Description:GRCh38/hg38 11q21(chr11:94324282-96081666)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: 4194 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 4195 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 1053 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 |
|---|---|---|---|---|---|---|---|
| nsv3916760 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 94,324,282 | 96,081,666 |
| nsv3916760 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 94,057,448 | 95,814,830 |
| nsv3916760 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 93,697,096 | 95,454,478 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133867 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000134847.4, VCV000145480.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133867 | Submitted genomic | NC_000011.10:g.(?_ 94324282)_(9608166 6_?)dup | GRCh38 (hg38) | NC_000011.10 | Chr11 | 94,324,282 | 96,081,666 |
| nssv15133867 | Submitted genomic | NC_000011.9:g.(?_9 4057448)_(95814830 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 94,057,448 | 95,814,830 |
| nssv15133867 | Submitted genomic | NC_000011.8:g.(?_9 3697096)_(95454478 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 93,697,096 | 95,454,478 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133867 | GRCh37: NC_000011.9:g.(?_94057448)_(95814830_?)dup, GRCh38: NC_000011.10:g.(?_94324282)_(96081666_?)dup, NCBI36: NC_000011.8:g.(?_93697096)_(95454478_?)dup | copy number gain | maternal | See cases | Uncertain significance | ClinVar | RCV000134847.4, VCV000145480.2 | 3 |