A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14423681



Internal ID22162751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36497397..36497397hg38UCSC Ensembl
chr21:37869695..37869695hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3543932
Supporting Variants
SamplesHG00514
Known GenesCLDN14
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)nssv14423681
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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