A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273960



Internal ID22125051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:37322593..37333489hg38UCSC Ensembl
Outerchr4:37324215..37335111hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38824
hg19824
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224266
Supporting Variants
SamplesHG00512
Known GenesKIAA1239
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273960
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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