nsv4675438
- 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:1,287,400
- Description:GRCh37/hg19 5q23.2(chr5:122143334-123430731)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: 2947 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 2947 SVs from 91 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675438 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 122,807,639 | 124,095,038 |
| nsv4675438 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 122,143,334 | 123,430,731 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16206787 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001005732.1, VCV000814742.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16206787 | Remapped | Perfect | NC_000005.10:g.(?_ 122807639)_(124095 038_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 122,807,639 | 124,095,038 |
| nssv16206787 | Submitted genomic | NC_000005.9:g.(?_1 22143334)_(1234307 31_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 122,143,334 | 123,430,731 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16206787 | GRCh37: NC_000005.9:g.(?_122143334)_(123430731_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001005732.1, VCV000814742.1 | 3 |