A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209727



Internal ID22357757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:65326535..65489130hg38UCSC Ensembl
Outerchr4:66192253..66354848hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38162596
hg19162596
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271923, nssv14271924
SamplesNA19238, HG00732
Known GenesEPHA5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209727
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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