A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229348



Internal ID22371226
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261780
SamplesHG00732
Known GenesNEDD4L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229348
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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