A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233732



Internal ID22372830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:82197518..82222002hg38UCSC Ensembl
Outerchr17:80155394..80179878hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38890
hg19890
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261047, nssv14262010, nssv14262011, nssv14262014, nssv14262012, nssv14262013
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513
Known GenesCCDC57
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233732
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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