nsv3922416
- 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:662,118
- Description:GRCh38/hg38 11q12.3(chr11:62433886-63096003)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: 1969 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 1969 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 380 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922416 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 62,433,886 | 63,096,003 |
| nsv3922416 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 62,201,358 | 62,863,475 |
| nsv3922416 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 61,957,934 | 62,620,051 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146539 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053620.4, VCV000059754.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146539 | Submitted genomic | NC_000011.10:g.(?_ 62433886)_(6309600 3_?)dup | GRCh38 (hg38) | NC_000011.10 | Chr11 | 62,433,886 | 63,096,003 |
| nssv15146539 | Submitted genomic | NC_000011.9:g.(?_6 2201358)_(62863475 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 62,201,358 | 62,863,475 |
| nssv15146539 | Submitted genomic | NC_000011.8:g.(?_6 1957934)_(62620051 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 61,957,934 | 62,620,051 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146539 | GRCh37: NC_000011.9:g.(?_62201358)_(62863475_?)dup, GRCh38: NC_000011.10:g.(?_62433886)_(63096003_?)dup, NCBI36: NC_000011.8:g.(?_61957934)_(62620051_?)dup | copy number gain | de novo | See cases | Pathogenic | ClinVar | RCV000053620.4, VCV000059754.1 | 3 |