A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256780



Internal ID22271540
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226060
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256780
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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