A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3563n152



Internal ID22819266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41344511..41382487hg38UCSC Ensembl
chr17:39500763..39538739hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3837977
hg1937977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3215701, nsv3222118
SamplesNA19239
Known GenesKRT33A, KRT33B, KRT34
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv3563n152
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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