A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260776



Internal ID22272288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:55382865..55393429hg38UCSC Ensembl
Outerchr17:53460226..53470790hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3810565
hg1910565
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219092
Supporting Variants
SamplesNA19239
Known GenesMMD
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260776
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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