nsv5200366
- 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:11,361,802
- Description:GRCh37/hg19 4q34.3-35.2(chr4:179554876-190916678) AND multiple conditions
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 47310 SVs from 137 studies. See in: genome view
Overlapping variant regions from other studies: 47371 SVs from 137 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5200366 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 178,633,722 | 189,995,523 |
| nsv5200366 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 179,554,876 | 190,916,678 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16736640 | copy number loss | Multiple | Multiple | Atypical behavior; Behavioral abnormality; Overgrowth; Overgrowth | Likely pathogenic | ClinVar | RCV001291982.1, VCV000997081.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16736640 | Remapped | Perfect | NC_000004.12:g.(?_ 178633722)_(189995 523_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 178,633,722 | 189,995,523 |
| nssv16736640 | Submitted genomic | NC_000004.11:g.(?_ 179554876)_(190916 678_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 179,554,876 | 190,916,678 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16736640 | GRCh37: NC_000004.11:g.(?_179554876)_(190916678_?)del | copy number loss | paternal | Atypical behavior; Behavioral abnormality; Overgrowth; Overgrowth | Likely pathogenic | ClinVar | RCV001291982.1, VCV000997081.1 |