A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14400134



Internal ID22300280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:168309447..168309447hg38UCSC Ensembl
chr6:168710127..168710127hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3533247
Supporting Variants
SamplesNA19240
Known GenesDACT2
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)nssv14400134
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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