A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14400184



Internal ID22314185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:169242825..169242825hg38UCSC Ensembl
chr6:169642920..169642920hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38649
hg19649
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3539092
Supporting Variants
SamplesNA19240
Known GenesTHBS2
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)nssv14400184
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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