A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5634678



Internal ID21582983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:68217891..68217891hg38UCSC Ensembl
chr8:69130126..69130126hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17152051
SamplesHG00512
Known GenesPREX2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5634678
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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