A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14420602



Internal ID22158290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:84892600..84892600hg38UCSC Ensembl
chr2:85119724..85119724hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3541823
Supporting Variants
SamplesHG00514
Known Genes
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)nssv14420602
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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