nsv3873500
- 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:19,876,463
- Description:Single allele 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: 51070 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 50957 SVs from 139 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3873500 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 74,177,663 | 94,054,125 |
| nsv3873500 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 73,591,993 | 93,683,437 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15151681 | deletion | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000677988.2, VCV000560111.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15151681 | Remapped | Good | NC_000007.14:g.741 77663_94054125del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 74,177,663 | 94,054,125 |
| nssv15151681 | Submitted genomic | NC_000007.13:g.735 91993_93683437del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 73,591,993 | 93,683,437 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15151681 | GRCh37: NC_000007.13:g.73591993_93683437del | deletion | paternal | not provided | Uncertain significance | ClinVar | RCV000677988.2, VCV000560111.2 | 1 |