A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4448400



Internal ID22114577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:118093969..118093969hg38UCSC Ensembl
chr2:118851545..118851545hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38366
hg19366
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15760730
Samples
Known GenesINSIG2
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4448400
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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