nsv4728887
- 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:350,216
- Description:GRCh37/hg19 5q11.2(chr5:55867380-56217595)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: 1077 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 1077 SVs from 63 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728887 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 56,571,553 | 56,921,768 |
| nsv4728887 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 55,867,380 | 56,217,595 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255071 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001258852.1, VCV000979676.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255071 | Remapped | Perfect | NC_000005.10:g.(?_ 56571553)_(5692176 8_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 56,571,553 | 56,921,768 |
| nssv16255071 | Submitted genomic | NC_000005.9:g.(?_5 5867380)_(56217595 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 55,867,380 | 56,217,595 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255071 | GRCh37: NC_000005.9:g.(?_55867380)_(56217595_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001258852.1, VCV000979676.1 | 3 |