A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4437779



Internal ID22103959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233137837..233137837hg38UCSC Ensembl
chr2:234002547..234002547hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15766680
Samples
Known GenesINPP5D
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4437779
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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