nsv3919324
- 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:51,493
- Description:
GRCh38/hg38 4p16.3(chr4:975137-1026629)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: 686 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 686 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 354 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 |
|---|---|---|---|---|---|---|---|
| nsv3919324 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 975,137 | 1,026,629 |
| nsv3919324 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 968,925 | 1,020,417 |
| nsv3919324 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 958,925 | 1,010,417 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120900 | copy number gain | Multiple | Multiple | See cases | Benign/Likely benign | ClinVar | RCV000134630.4, VCV000145228.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120900 | Submitted genomic | NC_000004.12:g.(?_ 975137)_(1026629_? )dup | GRCh38 (hg38) | NC_000004.12 | Chr4 | 975,137 | 1,026,629 |
| nssv15120900 | Submitted genomic | NC_000004.11:g.(?_ 968925)_(1020417_? )dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 968,925 | 1,020,417 |
| nssv15120900 | Submitted genomic | NC_000004.10:g.(?_ 958925)_(1010417_? )dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 958,925 | 1,010,417 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120900 | GRCh37: NC_000004.11:g.(?_968925)_(1020417_?)dup, GRCh38: NC_000004.12:g.(?_975137)_(1026629_?)dup, NCBI36: NC_000004.10:g.(?_958925)_(1010417_?)dup | copy number gain | not provided | See cases | Benign/Likely benign | ClinVar | RCV000134630.4, VCV000145228.1 | 3 |