A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237604



Internal ID22373919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:61373959..61391663hg38UCSC Ensembl
Outerchr20:59949015..59966719hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38853
hg19853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267851, nssv14267852, nssv14267853
SamplesHG00512, NA19238, NA19239
Known GenesCDH4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237604
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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