nsv3919213
- 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:8,084,620
- Description:GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)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: 22390 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 22268 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 5593 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919213 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 51,899,860 | 59,984,479 |
| nsv3919213 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 52,766,026 | 60,850,197 |
| nsv3919213 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 52,460,783 | 60,532,792 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120561 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051773.5, VCV000058030.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120561 | Submitted genomic | NC_000004.12:g.(?_ 51899860)_(5998447 9_?)dup | GRCh38 (hg38) | NC_000004.12 | Chr4 | 51,899,860 | 59,984,479 |
| nssv15120561 | Submitted genomic | NC_000004.11:g.(?_ 52766026)_(6085019 7_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 52,766,026 | 60,850,197 |
| nssv15120561 | Submitted genomic | NC_000004.10:g.(?_ 52460783)_(6053279 2_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 52,460,783 | 60,532,792 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120561 | GRCh37: NC_000004.11:g.(?_52766026)_(60850197_?)dup, GRCh38: NC_000004.12:g.(?_51899860)_(59984479_?)dup, NCBI36: NC_000004.10:g.(?_52460783)_(60532792_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000051773.5, VCV000058030.1 | 3 |