A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14395377



Internal ID22316210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202577538..202577538hg38UCSC Ensembl
chr2:203442261..203442261hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3538348
Supporting Variants
SamplesNA19240
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)nssv14395377
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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