nsv4768375
- 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:9,914,129
- Description:GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3 AND 5q35 microduplication syndrome
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 33188 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 33189 SVs from 133 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4768375 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 171,378,660 | 181,292,788 |
| nsv4768375 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 170,805,664 | 180,719,789 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16296946 | copy number gain | Multiple | Multiple | 5q35 microduplication syndrome | Pathogenic | ClinVar | RCV001263227.1, VCV000981214.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16296946 | Remapped | Perfect | NC_000005.10:g.(?_ 171378660)_(181292 788_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 171,378,660 | 181,292,788 |
| nssv16296946 | Submitted genomic | NC_000005.9:g.(?_1 70805664)_(1807197 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 170,805,664 | 180,719,789 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16296946 | GRCh37: NC_000005.9:g.(?_170805664)_(180719789_?)dup | copy number gain | germline | 5q35 microduplication syndrome | Pathogenic | ClinVar | RCV001263227.1, VCV000981214.1 | 3 |