nsv3905957
- 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:33,701
- Description:GRCh37/hg19 14q32.33(chr14:105047592-105081292)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: 165 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 74 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 191 SVs from 50 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3905957 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | Second Pass | NC_000014.9 | Chr14 | 104,581,255 | 104,614,955 |
| nsv3905957 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187599.1 | Chr14|NT_1 87599.1 | 139,078 | 172,778 |
| nsv3905957 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 105,047,592 | 105,081,292 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15140530 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000447906.3, VCV000395494.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15140530 | Remapped | Perfect | NT_187599.1:g.(?_1 39078)_(172778_?)d up | GRCh38.p12 | First Pass | NT_187599.1 | Chr14|NT_1 87599.1 | 139,078 | 172,778 |
| nssv15140530 | Remapped | Perfect | NC_000014.9:g.(?_1 04581255)_(1046149 55_?)dup | GRCh38.p12 | Second Pass | NC_000014.9 | Chr14 | 104,581,255 | 104,614,955 |
| nssv15140530 | Submitted genomic | NC_000014.8:g.(?_1 05047592)_(1050812 92_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 105,047,592 | 105,081,292 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15140530 | GRCh37: NC_000014.8:g.(?_105047592)_(105081292_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000447906.3, VCV000395494.3 | 3 |