A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4437781



Internal ID22103961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233463245..233463245hg38UCSC Ensembl
chr2:234371891..234371891hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15761481
Samples
Known GenesDGKD
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4437781
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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