A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260954



Internal ID22256746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41241555..41276318hg38UCSC Ensembl
Outerchr17:39397807..39432570hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3834764
hg1934764
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215763
Supporting Variants
SamplesNA19238
Known GenesKRTAP9-4, KRTAP9-6, KRTAP9-7, KRTAP9-9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260954
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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