nsv3911302
- 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:6,029,144
- Description:GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1 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: 14855 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 14855 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 3935 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911302 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 57,013,355 | 63,042,498 |
| nsv3911302 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 57,407,139 | 63,436,278 |
| nsv3911302 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 55,693,406 | 61,722,545 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133179 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052813.5, VCV000059019.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133179 | Submitted genomic | NC_000012.12:g.(?_ 57013355)_(6304249 8_?)del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 57,013,355 | 63,042,498 |
| nssv15133179 | Submitted genomic | NC_000012.11:g.(?_ 57407139)_(6343627 8_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 57,407,139 | 63,436,278 |
| nssv15133179 | Submitted genomic | NC_000012.10:g.(?_ 55693406)_(6172254 5_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 55,693,406 | 61,722,545 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133179 | GRCh37: NC_000012.11:g.(?_57407139)_(63436278_?)del, GRCh38: NC_000012.12:g.(?_57013355)_(63042498_?)del, NCBI36: NC_000012.10:g.(?_55693406)_(61722545_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000052813.5, VCV000059019.1 | 1 |