nsv3922472
- 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:7,673,895
- Description:GRCh38/hg38 13q12.3-13.3(chr13:29321454-36995348)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: 18240 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 18240 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 5042 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 |
|---|---|---|---|---|---|---|---|
| nsv3922472 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 29,321,454 | 36,995,348 |
| nsv3922472 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 29,895,591 | 37,569,485 |
| nsv3922472 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 28,793,591 | 36,467,485 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137913 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142869.4, VCV000154802.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137913 | Submitted genomic | NC_000013.11:g.(?_ 29321454)_(3699534 8_?)dup | GRCh38 (hg38) | NC_000013.11 | Chr13 | 29,321,454 | 36,995,348 |
| nssv15137913 | Submitted genomic | NC_000013.10:g.(?_ 29895591)_(3756948 5_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 29,895,591 | 37,569,485 |
| nssv15137913 | Submitted genomic | NC_000013.9:g.(?_2 8793591)_(36467485 _?)dup | NCBI36 (hg18) | NC_000013.9 | Chr13 | 28,793,591 | 36,467,485 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137913 | GRCh37: NC_000013.10:g.(?_29895591)_(37569485_?)dup, GRCh38: NC_000013.11:g.(?_29321454)_(36995348_?)dup, NCBI36: NC_000013.9:g.(?_28793591)_(36467485_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000142869.4, VCV000154802.2 | 3 |