A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228687



Internal ID22370791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1371025..1416658hg38UCSC Ensembl
Outerchr4:1364813..1410446hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381833
hg191833
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273953, nssv14273952
SamplesNA19240, HG00733
Known GenesCRIPAK, UVSSA
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228687
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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