nsv3916921
- 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:1,271,163
- Description:GRCh38/hg38 12q24.21-24.22(chr12:116028938-117300100)x3 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: 3674 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 3674 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 1016 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3916921 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 116,028,938 | 117,300,100 |
| nsv3916921 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 116,466,743 | 117,737,905 |
| nsv3916921 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 114,951,126 | 116,222,288 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132172 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000051980.4, VCV000058231.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132172 | Submitted genomic | NC_000012.12:g.(?_ 116028938)_(117300 100_?)dup | GRCh38 (hg38) | NC_000012.12 | Chr12 | 116,028,938 | 117,300,100 |
| nssv15132172 | Submitted genomic | NC_000012.11:g.(?_ 116466743)_(117737 905_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 116,466,743 | 117,737,905 |
| nssv15132172 | Submitted genomic | NC_000012.10:g.(?_ 114951126)_(116222 288_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 114,951,126 | 116,222,288 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132172 | GRCh37: NC_000012.11:g.(?_116466743)_(117737905_?)dup, GRCh38: NC_000012.12:g.(?_116028938)_(117300100_?)dup, NCBI36: NC_000012.10:g.(?_114951126)_(116222288_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000051980.4, VCV000058231.1 | 3 |