A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260774



Internal ID22270724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41352984..41382487hg38UCSC Ensembl
Outerchr17:39509236..39538739hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3829504
hg1929504
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222118
Supporting Variants
SamplesNA19239
Known GenesKRT33B, KRT34
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260774
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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