nsv4728911
- 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:17,357,995
- Description:GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)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: 52492 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 52500 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728911 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 12,670,973 | 30,028,967 |
| nsv4728911 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 12,528,482 | 29,886,483 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255695 | copy number gain | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV001260030.1, VCV000980854.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255695 | Remapped | Perfect | NC_000008.11:g.(?_ 12670973)_(3002896 7_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 12,670,973 | 30,028,967 |
| nssv16255695 | Submitted genomic | NC_000008.10:g.(?_ 12528482)_(2988648 3_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 12,528,482 | 29,886,483 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255695 | GRCh37: NC_000008.10:g.(?_12528482)_(29886483_?)dup | copy number gain | germline | not provided | Likely pathogenic | ClinVar | RCV001260030.1, VCV000980854.1 | 3 |