A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274930



Internal ID22253641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:82269075..82287786hg38UCSC Ensembl
Outerchr5:81564894..81583605hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg3818712
hg1918712
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199719
Supporting Variants
SamplesNA19238
Known GenesRPS23
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274930
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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