A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215701



Internal ID22361941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41344511..41373765hg38UCSC Ensembl
Outerchr17:39500763..39530017hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3829255
hg1929255
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3563n152
Supporting Variantsnssv14260773
SamplesNA19239
Known GenesKRT33A, KRT33B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215701
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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