A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14394237



Internal ID22285233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233176610..233176610hg38UCSC Ensembl
chr2:234085256..234085256hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38597
hg19597
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3541920
Supporting Variants
SamplesNA19240
Known GenesINPP5D
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14394237
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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