nsv4769380
- 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:1,424,515
- Description:GRCh37/hg19 7q11.23(chr7:72717369-74142224)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: 4659 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 4650 SVs from 101 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4769380 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 73,303,372 | 74,727,886 |
| nsv4769380 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 72,717,369 | 74,142,224 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16297072 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001270666.4, VCV000988936.4 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16297072 | Remapped | Good | NC_000007.14:g.733 03372_74727886del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 73,303,372 | 74,727,886 |
| nssv16297072 | Submitted genomic | NC_000007.13:g.727 17369_74142224del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 72,717,369 | 74,142,224 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16297072 | GRCh37: NC_000007.13:g.72717369_74142224del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV001270666.4, VCV000988936.4 | 1 |