A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261502



Internal ID22184006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:80313380..80316556hg38UCSC Ensembl
Outerchr17:78287180..78290356hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg383177
hg193177
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230074
Supporting Variants
SamplesHG00731
Known GenesRNF213
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261502
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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