nsv3923612
- 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:6,781,430
- Description:GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)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: 22343 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 22343 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 5004 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 |
|---|---|---|---|---|---|---|---|
| nsv3923612 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 120,718,786 | 127,500,215 |
| nsv3923612 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 121,156,589 | 127,984,760 |
| nsv3923612 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 119,640,972 | 126,550,713 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146019 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142454.8, VCV000154387.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146019 | Submitted genomic | NC_000012.12:g.(?_ 120718786)_(127500 215_?)del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 120,718,786 | 127,500,215 |
| nssv15146019 | Submitted genomic | NC_000012.11:g.(?_ 121156589)_(127984 760_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 121,156,589 | 127,984,760 |
| nssv15146019 | Submitted genomic | NC_000012.10:g.(?_ 119640972)_(126550 713_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 119,640,972 | 126,550,713 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146019 | GRCh37: NC_000012.11:g.(?_121156589)_(127984760_?)del, GRCh38: NC_000012.12:g.(?_120718786)_(127500215_?)del, NCBI36: NC_000012.10:g.(?_119640972)_(126550713_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000142454.8, VCV000154387.2 | 1 |