nsv6637116
- 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:703,925
- Description:GRCh37/hg19 5q13.2-13.3(chr5:73126777-73830701)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: 1478 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 1478 SVs from 77 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637116 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 73,830,952 | 74,534,876 |
| nsv6637116 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 73,126,777 | 73,830,701 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330502 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002474762.1, VCV001808917.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330502 | Remapped | Perfect | NC_000005.10:g.(?_ 73830952)_(7453487 6_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 73,830,952 | 74,534,876 |
| nssv18330502 | Submitted genomic | NC_000005.9:g.(?_7 3126777)_(73830701 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 73,126,777 | 73,830,701 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330502 | GRCh37: NC_000005.9:g.(?_73126777)_(73830701_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002474762.1, VCV001808917.1 | 3 |