nsv3919838
- 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:620,697
- Description:GRCh38/hg38 11q12.1(chr11:56149822-56770518)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: 1809 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 1809 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 448 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919838 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 56,149,822 | 56,770,518 |
| nsv3919838 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 55,917,298 | 56,537,994 |
| nsv3919838 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 55,673,874 | 56,294,570 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133851 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000134767.4, VCV000145380.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133851 | Submitted genomic | NC_000011.10:g.(?_ 56149822)_(5677051 8_?)dup | GRCh38 (hg38) | NC_000011.10 | Chr11 | 56,149,822 | 56,770,518 |
| nssv15133851 | Submitted genomic | NC_000011.9:g.(?_5 5917298)_(56537994 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 55,917,298 | 56,537,994 |
| nssv15133851 | Submitted genomic | NC_000011.8:g.(?_5 5673874)_(56294570 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 55,673,874 | 56,294,570 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133851 | GRCh37: NC_000011.9:g.(?_55917298)_(56537994_?)dup, GRCh38: NC_000011.10:g.(?_56149822)_(56770518_?)dup, NCBI36: NC_000011.8:g.(?_55673874)_(56294570_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000134767.4, VCV000145380.2 | 3 |