A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230074



Internal ID22371717
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261504, nssv14261501, nssv14261506, nssv14261502, nssv14261503, nssv14261505
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00513
Known GenesRNF213
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230074
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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