A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226060



Internal ID22368999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:22619729..22650713hg38UCSC Ensembl
Outerchr14:23088632..23119922hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3830985
hg1931291
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256781, nssv14257776, nssv14256779, nssv14256777, nssv14256778, nssv14256780
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226060
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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