A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262962



Internal ID22185283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:63624701..63641787hg38UCSC Ensembl
Outerchr18:61291935..61309021hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg3818613
hg1918613
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238899
Supporting Variants
SamplesHG00731
Known GenesSERPINB4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262962
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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