A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4439777



Internal ID22105954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122747738..122747738hg38UCSC Ensembl
chr3:122466585..122466585hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15756798
Samples
Known GenesHSPBAP1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4439777
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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