nsv3900620
- 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:16,283,923
- Description:GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)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: 37140 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 37142 SVs from 129 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3900620 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 111,973,341 | 128,257,263 |
| nsv3900620 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 111,613,396 | 127,897,316 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147680 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000240177.2, VCV000253455.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15147680 | Remapped | Perfect | NC_000007.14:g.(?_ 111973341)_(128257 263_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 111,973,341 | 128,257,263 |
| nssv15147680 | Submitted genomic | NC_000007.13:g.(?_ 111613396)_(127897 316_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 111,613,396 | 127,897,316 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147680 | GRCh37: NC_000007.13:g.(?_111613396)_(127897316_?)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV000240177.2, VCV000253455.2 | 1 |