nsv4684255
- 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:409,262
- Description:GRCh37/hg19 7p11.2(chr7:57127051-57528311)x3 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: 1451 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 1426 SVs from 93 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4684255 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 57,059,344 | 57,468,605 |
| nsv4684255 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 57,127,051 | 57,528,311 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16215304 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV001194598.1, VCV000929401.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16215304 | Remapped | Good | NC_000007.14:g.(?_ 57059344)_(5746860 5_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 57,059,344 | 57,468,605 |
| nssv16215304 | Submitted genomic | NC_000007.13:g.(?_ 57127051)_(5752831 1_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 57,127,051 | 57,528,311 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16215304 | GRCh37: NC_000007.13:g.(?_57127051)_(57528311_?)dup | copy number gain | unknown | See cases | Uncertain significance | ClinVar | RCV001194598.1, VCV000929401.1 | 3 |