nsv4674231
- 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:11,714,034
- Description:GRCh37/hg19 5p13.1-q11.1(chr5:38432180-49441945)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: 21561 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 21213 SVs from 121 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674231 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 38,432,078 | 50,146,111 |
| nsv4674231 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 38,432,180 | 49,441,945 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16206764 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001005674.1, VCV000814684.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16206764 | Remapped | Pass | NC_000005.10:g.(?_ 38432078)_(5014611 1_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 38,432,078 | 50,146,111 |
| nssv16206764 | Submitted genomic | NC_000005.9:g.(?_3 8432180)_(49441945 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 38,432,180 | 49,441,945 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16206764 | GRCh37: NC_000005.9:g.(?_38432180)_(49441945_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001005674.1, VCV000814684.1 | 3 |