nsv3914999
- 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:7,729,373
- Description:GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)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: 25900 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 25899 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 6321 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 |
|---|---|---|---|---|---|---|---|
| nsv3914999 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 122,985,202 | 130,714,574 |
| nsv3914999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 123,469,749 | 131,199,119 |
| nsv3914999 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 122,035,702 | 129,765,072 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120282 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051345.7, VCV000057612.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120282 | Submitted genomic | NC_000012.12:g.(?_ 122985202)_(130714 574_?)del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 122,985,202 | 130,714,574 |
| nssv15120282 | Submitted genomic | NC_000012.11:g.(?_ 123469749)_(131199 119_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 123,469,749 | 131,199,119 |
| nssv15120282 | Submitted genomic | NC_000012.10:g.(?_ 122035702)_(129765 072_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 122,035,702 | 129,765,072 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120282 | GRCh37: NC_000012.11:g.(?_123469749)_(131199119_?)del, GRCh38: NC_000012.12:g.(?_122985202)_(130714574_?)del, NCBI36: NC_000012.10:g.(?_122035702)_(129765072_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000051345.7, VCV000057612.1 | 1 |