nsv4675088
- 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:1,246,758
- Description:GRCh37/hg19 5q13.2-13.3(chr5:72829994-74076751)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: 2722 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 2722 SVs from 81 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675088 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 73,534,169 | 74,780,926 |
| nsv4675088 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 72,829,994 | 74,076,751 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16206768 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001005684.1, VCV000814694.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16206768 | Remapped | Perfect | NC_000005.10:g.(?_ 73534169)_(7478092 6_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 73,534,169 | 74,780,926 |
| nssv16206768 | Submitted genomic | NC_000005.9:g.(?_7 2829994)_(74076751 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 72,829,994 | 74,076,751 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16206768 | GRCh37: NC_000005.9:g.(?_72829994)_(74076751_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001005684.1, VCV000814694.1 | 3 |