A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273500



Internal ID22264500
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229618
Supporting Variants
SamplesNA19238
Known GenesC4orf19, RELL1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273500
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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