A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14399445



Internal ID22317170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2893189..2893189hg38UCSC Ensembl
chr6:2893423..2893423hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3542678
Supporting Variants
SamplesNA19240
Known GenesSERPINB9
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)nssv14399445
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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