nsv7098857
- 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:454,143
- Description:GRCh37/hg19 4p14(chr4:39245868-39700010)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: 1861 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 1861 SVs from 71 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7098857 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 39,244,248 | 39,698,390 |
| nsv7098857 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 39,245,868 | 39,700,010 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18792730 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV003223174.2, VCV002498965.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18792730 | Remapped | Perfect | NC_000004.12:g.(?_ 39244248)_(3969839 0_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 39,244,248 | 39,698,390 |
| nssv18792730 | Submitted genomic | NC_000004.11:g.(?_ 39245868)_(3970001 0_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 39,245,868 | 39,700,010 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18792730 | GRCh37: NC_000004.11:g.(?_39245868)_(39700010_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV003223174.2, VCV002498965.3 | 3 |