nsv4455839
- 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:381,269
- Description:GRCh37/hg19 8q13.1-13.2(chr8:67780228-68161496)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: 1003 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 1003 SVs from 67 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4455839 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 66,867,993 | 67,249,261 |
nsv4455839 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 67,780,228 | 68,161,496 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15776083 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000848585.2, VCV000687894.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15776083 | Remapped | Perfect | NC_000008.11:g.(?_ 66867993)_(6724926 1_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 66,867,993 | 67,249,261 |
nssv15776083 | Submitted genomic | NC_000008.10:g.(?_ 67780228)_(6816149 6_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 67,780,228 | 68,161,496 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15776083 | GRCh37: NC_000008.10:g.(?_67780228)_(68161496_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000848585.2, VCV000687894.2 | 3 |