nsv3924646
- 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:2,222,923
- Description:GRCh38/hg38 11q11-12.1(chr11:55316535-57539457)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: 8250 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 8258 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 2216 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 |
|---|---|---|---|---|---|---|---|
| nsv3924646 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 55,316,535 | 57,539,457 |
| nsv3924646 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 55,084,011 | 57,306,930 |
| nsv3924646 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 54,840,587 | 57,063,506 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138517 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000141200.4, VCV000152667.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138517 | Submitted genomic | NC_000011.10:g.(?_ 55316535)_(5753945 7_?)dup | GRCh38 (hg38) | NC_000011.10 | Chr11 | 55,316,535 | 57,539,457 |
| nssv15138517 | Submitted genomic | NC_000011.9:g.(?_5 5084011)_(57306930 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 55,084,011 | 57,306,930 |
| nssv15138517 | Submitted genomic | NC_000011.8:g.(?_5 4840587)_(57063506 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,840,587 | 57,063,506 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138517 | GRCh37: NC_000011.9:g.(?_55084011)_(57306930_?)dup, GRCh38: NC_000011.10:g.(?_55316535)_(57539457_?)dup, NCBI36: NC_000011.8:g.(?_54840587)_(57063506_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000141200.4, VCV000152667.2 | 3 |