nsv4675996
- 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:1,310,481
- Description:GRCh37/hg19 14q21.3-22.1(chr14:50317272-51627752)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: 4033 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 4033 SVs from 90 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675996 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 49,850,554 | 51,161,034 |
| nsv4675996 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 50,317,272 | 51,627,752 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207207 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001006632.1, VCV000815655.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207207 | Remapped | Perfect | NC_000014.9:g.(?_4 9850554)_(51161034 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 49,850,554 | 51,161,034 |
| nssv16207207 | Submitted genomic | NC_000014.8:g.(?_5 0317272)_(51627752 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 50,317,272 | 51,627,752 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207207 | GRCh37: NC_000014.8:g.(?_50317272)_(51627752_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001006632.1, VCV000815655.1 | 3 |