A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217763



Internal ID22363320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:14824766..14842784hg38UCSC Ensembl
Outerchr4:14826390..14844408hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg383116
hg193116
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273463, nssv14273465, nssv14273461, nssv14273464, nssv14273462
SamplesHG00512, NA19238, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217763
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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