A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14400109



Internal ID22293729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:134193809..134193809hg38UCSC Ensembl
chr6:134514947..134514947hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38153
hg19153
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3534987
Supporting Variants
SamplesNA19240
Known GenesSGK1
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)nssv14400109
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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