A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267667



Internal ID22293995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:30538025..30572753hg38UCSC Ensembl
Outerchr21:31910344..31945072hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38975
hg19975
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235357
Supporting Variants
SamplesNA19240
Known GenesKRTAP19-6, KRTAP19-7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267667
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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