A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14450198



Internal ID22245404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233137873..233137873hg38UCSC Ensembl
chr2:234002583..234002583hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3540318
Supporting Variants
SamplesHG00733
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)nssv14450198
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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