A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14446344



Internal ID22224994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43780565..43780565hg38UCSC Ensembl
chr19:44284717..44284717hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3547822
Supporting Variants
SamplesHG00733
Known GenesKCNN4
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)nssv14446344
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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