nsv4728923
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:2,869,395
- Description:GRCh37/hg19 4q34.3-35.1(chr4:181853722-184723116)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 9263 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 9263 SVs from 105 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728923 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 180,932,569 | 183,801,963 |
| nsv4728923 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 181,853,722 | 184,723,116 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255623 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001259889.1, VCV000980713.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255623 | Remapped | Perfect | NC_000004.12:g.(?_ 180932569)_(183801 963_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 180,932,569 | 183,801,963 |
| nssv16255623 | Submitted genomic | NC_000004.11:g.(?_ 181853722)_(184723 116_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 181,853,722 | 184,723,116 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255623 | GRCh37: NC_000004.11:g.(?_181853722)_(184723116_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001259889.1, VCV000980713.1 | 1 |