nsv3924329
- 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:11,423,662
- Description:GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)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: 27393 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 27393 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 7266 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 |
|---|---|---|---|---|---|---|---|
| nsv3924329 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 70,337,484 | 81,761,145 |
| nsv3924329 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 70,731,264 | 82,154,924 |
| nsv3924329 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 69,017,531 | 80,679,055 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145687 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051313.6, VCV000057584.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145687 | Submitted genomic | NC_000012.12:g.(?_ 70337484)_(8176114 5_?)del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 70,337,484 | 81,761,145 |
| nssv15145687 | Submitted genomic | NC_000012.11:g.(?_ 70731264)_(8215492 4_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 70,731,264 | 82,154,924 |
| nssv15145687 | Submitted genomic | NC_000012.10:g.(?_ 69017531)_(8067905 5_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 69,017,531 | 80,679,055 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145687 | GRCh37: NC_000012.11:g.(?_70731264)_(82154924_?)del, GRCh38: NC_000012.12:g.(?_70337484)_(81761145_?)del, NCBI36: NC_000012.10:g.(?_69017531)_(80679055_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000051313.6, VCV000057584.1 | 1 |