nsv3920814
- 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:1,651,628
- Description:GRCh38/hg38 4p15.31(chr4:19186844-20838471)x1 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: 4463 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 4463 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 983 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920814 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 19,186,844 | 20,838,471 |
| nsv3920814 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 19,188,467 | 20,840,094 |
| nsv3920814 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 18,797,565 | 20,449,192 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138943 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000141949.5, VCV000153633.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138943 | Submitted genomic | NC_000004.12:g.(?_ 19186844)_(2083847 1_?)del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 19,186,844 | 20,838,471 |
| nssv15138943 | Submitted genomic | NC_000004.11:g.(?_ 19188467)_(2084009 4_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 19,188,467 | 20,840,094 |
| nssv15138943 | Submitted genomic | NC_000004.10:g.(?_ 18797565)_(2044919 2_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 18,797,565 | 20,449,192 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138943 | GRCh37: NC_000004.11:g.(?_19188467)_(20840094_?)del, GRCh38: NC_000004.12:g.(?_19186844)_(20838471_?)del, NCBI36: NC_000004.10:g.(?_18797565)_(20449192_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000141949.5, VCV000153633.2 | 1 |