A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262902



Internal ID22185245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:58208773..58216607hg38UCSC Ensembl
Outerchr18:55876005..55883839hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38744
hg19744
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236277
Supporting Variants
SamplesHG00731
Known GenesNEDD4L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262902
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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