nsv3916654
- 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:38,615,218
- Description:GRCh38/hg38 4p16.3-14(chr4:85149-38700366)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: 117716 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 117641 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 29840 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3916654 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 85,149 | 38,700,366 |
| nsv3916654 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 85,040 | 38,701,987 |
| nsv3916654 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 75,040 | 38,378,382 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146984 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051757.7, VCV000058015.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146984 | Submitted genomic | NC_000004.12:g.(?_ 85149)_(38700366_? )dup | GRCh38 (hg38) | NC_000004.12 | Chr4 | 85,149 | 38,700,366 |
| nssv15146984 | Submitted genomic | NC_000004.11:g.(?_ 85040)_(38701987_? )dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 85,040 | 38,701,987 |
| nssv15146984 | Submitted genomic | NC_000004.10:g.(?_ 75040)_(38378382_? )dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 75,040 | 38,378,382 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146984 | GRCh37: NC_000004.11:g.(?_85040)_(38701987_?)dup, GRCh38: NC_000004.12:g.(?_85149)_(38700366_?)dup, NCBI36: NC_000004.10:g.(?_75040)_(38378382_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000051757.7, VCV000058015.2 | 3 |