A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14450173



Internal ID22245382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:165666950..165666950hg38UCSC Ensembl
chr2:166523460..166523460hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3530560
Supporting Variants
SamplesHG00733
Known GenesCSRNP3
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)nssv14450173
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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