A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14398456



Internal ID22305326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:139572217..139572217hg38UCSC Ensembl
chr4:140493371..140493371hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3533226
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)nssv14398456
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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