nsv4675933
- 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:417,571
- Description:GRCh37/hg19 7p12.3(chr7:47461423-47878993)x3 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: 1360 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 1360 SVs from 77 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675933 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 47,421,825 | 47,839,395 |
| nsv4675933 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 47,461,423 | 47,878,993 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16206880 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001005948.1, VCV000814971.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16206880 | Remapped | Perfect | NC_000007.14:g.(?_ 47421825)_(4783939 5_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 47,421,825 | 47,839,395 |
| nssv16206880 | Submitted genomic | NC_000007.13:g.(?_ 47461423)_(4787899 3_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 47,461,423 | 47,878,993 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16206880 | GRCh37: NC_000007.13:g.(?_47461423)_(47878993_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001005948.1, VCV000814971.1 | 3 |