A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229618



Internal ID22371410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:37565114..37603102hg38UCSC Ensembl
Outerchr4:37566736..37604724hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg381616
hg191616
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273498, nssv14273499, nssv14273500, nssv14273497
SamplesNA19238, HG00731, HG00733, HG00513
Known GenesC4orf19, RELL1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229618
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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