A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14427075



Internal ID22167750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:161265350..161265350hg38UCSC Ensembl
chr6:161686382..161686382hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3541040
Supporting Variants
SamplesHG00514
Known GenesAGPAT4
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)nssv14427075
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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