A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254952



Internal ID22187929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1596369..1636577hg38UCSC Ensembl
Outerchr11:1617599..1657807hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248465
Supporting Variants
SamplesHG00731
Known GenesKRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-AS1, MOB2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254952
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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