nsv3910165
- 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:964,442
- Description:GRCh38/hg38 11q11-12.1(chr11:55265785-56230226)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: 5248 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 5257 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 1465 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3910165 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 55,265,785 | 56,230,226 |
| nsv3910165 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 55,033,261 | 55,997,702 |
| nsv3910165 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 54,789,837 | 55,754,278 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120803 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000134403.3, VCV000145000.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120803 | Submitted genomic | NC_000011.10:g.(?_ 55265785)_(5623022 6_?)dup | GRCh38 (hg38) | NC_000011.10 | Chr11 | 55,265,785 | 56,230,226 |
| nssv15120803 | Submitted genomic | NC_000011.9:g.(?_5 5033261)_(55997702 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 55,033,261 | 55,997,702 |
| nssv15120803 | Submitted genomic | NC_000011.8:g.(?_5 4789837)_(55754278 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,789,837 | 55,754,278 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120803 | GRCh37: NC_000011.9:g.(?_55033261)_(55997702_?)dup, GRCh38: NC_000011.10:g.(?_55265785)_(56230226_?)dup, NCBI36: NC_000011.8:g.(?_54789837)_(55754278_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000134403.3, VCV000145000.1 | 3 |