A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262896



Internal ID22134022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:57018477..57039292hg38UCSC Ensembl
Outerchr18:54685708..54706523hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg382432
hg192432
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3250338
Supporting Variants
SamplesHG00513
Known GenesWDR7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262896
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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