A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14440055



Internal ID22231366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6005380..6005380hg38UCSC Ensembl
chr1:6065440..6065440hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38199
hg19199
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3538457
Supporting Variants
SamplesHG00733
Known GenesKCNAB2
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)nssv14440055
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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