nsv4675472
- 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:21,389,117
- Description:GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 51951 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 51905 SVs from 131 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675472 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 88,497,027 | 109,886,143 |
| nsv4675472 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 87,792,844 | 109,221,844 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207624 | copy number gain | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV001007415.1, VCV000816490.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207624 | Remapped | Good | NC_000005.10:g.(?_ 88497027)_(1098861 43_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 88,497,027 | 109,886,143 |
| nssv16207624 | Submitted genomic | NC_000005.9:g.(?_8 7792844)_(10922184 4_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 87,792,844 | 109,221,844 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207624 | GRCh37: NC_000005.9:g.(?_87792844)_(109221844_?)dup | copy number gain | unknown | See cases | Likely pathogenic | ClinVar | RCV001007415.1, VCV000816490.1 | 3 |