A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209067



Internal ID22357199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:25311970..25320776hg38UCSC Ensembl
Outerchr5:25312079..25320885hg19UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg388807
hg198807
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273715, nssv14274685
SamplesHG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209067
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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