A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274012



Internal ID22123805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:182827329..182843217hg38UCSC Ensembl
Outerchr4:183748482..183764370hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg381549
hg191549
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214205
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274012
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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