nsv3918556
- 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:7,371,638
- Description:GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)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: 18451 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 18451 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 4977 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918556 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 68,011,417 | 75,383,054 |
| nsv3918556 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 68,405,197 | 75,776,834 |
| nsv3918556 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 66,691,464 | 74,063,101 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147301 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000135587.4, VCV000146282.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147301 | Submitted genomic | NC_000012.12:g.(?_ 68011417)_(7538305 4_?)del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 68,011,417 | 75,383,054 |
| nssv15147301 | Submitted genomic | NC_000012.11:g.(?_ 68405197)_(7577683 4_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 68,405,197 | 75,776,834 |
| nssv15147301 | Submitted genomic | NC_000012.10:g.(?_ 66691464)_(7406310 1_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 66,691,464 | 74,063,101 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147301 | GRCh37: NC_000012.11:g.(?_68405197)_(75776834_?)del, GRCh38: NC_000012.12:g.(?_68011417)_(75383054_?)del, NCBI36: NC_000012.10:g.(?_66691464)_(74063101_?)del | copy number loss | not provided | See cases | Likely pathogenic | ClinVar | RCV000135587.4, VCV000146282.2 | 1 |