A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14443096



Internal ID22239268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:69721062..69721062hg38UCSC Ensembl
chr13:70295194..70295194hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3543113
Supporting Variants
SamplesHG00733
Known GenesKLHL1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14443096
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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