A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202542



Internal ID22351692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:23617739..23692075hg38UCSC Ensembl
Outerchr5:23617848..23692184hg19UCSC Ensembl
Cytoband5p14.2
Allele length
AssemblyAllele length
hg3874337
hg1974337
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274353, nssv14274354, nssv14274352
SamplesHG00512, NA19238, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202542
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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