A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3948762



Internal ID21368831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:25315134..25315134hg38UCSC Ensembl
chr8:25172650..25172650hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15204387
SamplesHG002
Known GenesDOCK5
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3948762
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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