A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261780



Internal ID22199190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:58308833..58317824hg38UCSC Ensembl
Outerchr18:55976065..55985056hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg388992
hg198992
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229348
Supporting Variants
SamplesHG00732
Known GenesNEDD4L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261780
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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