A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196684



Internal ID22346657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:24815365..24896043hg38UCSC Ensembl
Outerchr5:24815474..24896152hg19UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg3880679
hg1980679
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273663
SamplesHG00731
Known GenesLOC340107
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196684
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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