A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258909



Internal ID22193185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104940678..104975088hg38UCSC Ensembl
Outerchr14:105407015..105441425hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3834411
hg1934411
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225294
Supporting Variants
SamplesHG00731
Known GenesAHNAK2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258909
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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