nsv3912703
- 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:19,399,304
- Description:GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)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: 59255 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 59270 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 16304 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3912703 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 1,258,274 | 20,657,577 |
| nsv3912703 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 1,367,440 | 20,810,511 |
| nsv3912703 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 1,237,701 | 20,701,778 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147545 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141905.5, VCV000153563.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147545 | Submitted genomic | NC_000012.12:g.(?_ 1258274)_(20657577 _?)dup | GRCh38 (hg38) | NC_000012.12 | Chr12 | 1,258,274 | 20,657,577 |
| nssv15147545 | Submitted genomic | NC_000012.11:g.(?_ 1367440)_(20810511 _?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 1,367,440 | 20,810,511 |
| nssv15147545 | Submitted genomic | NC_000012.10:g.(?_ 1237701)_(20701778 _?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 1,237,701 | 20,701,778 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147545 | GRCh37: NC_000012.11:g.(?_1367440)_(20810511_?)dup, GRCh38: NC_000012.12:g.(?_1258274)_(20657577_?)dup, NCBI36: NC_000012.10:g.(?_1237701)_(20701778_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000141905.5, VCV000153563.2 | 3 |