A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14397180



Internal ID22293138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8294666..8294666hg38UCSC Ensembl
chr4:8296393..8296393hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381121
hg191121
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3542498
Supporting Variants
SamplesNA19240
Known GenesHTRA3
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)nssv14397180
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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