A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14400773



Internal ID22323727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:157147193..157147193hg38UCSC Ensembl
chr6:157468327..157468327hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38385
hg19385
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3536626
Supporting Variants
SamplesNA19240
Known GenesARID1B
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)nssv14400773
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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