A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211716



Internal ID22359187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:65522784..65553024hg38UCSC Ensembl
Outerchr4:66388502..66418742hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38754
hg19754
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273991, nssv14273990
SamplesHG00512, HG00513
Known GenesEPHA5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211716
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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