A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260212



Internal ID22295530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:4199026..4218869hg38UCSC Ensembl
Outerchr16:4249027..4268870hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3819844
hg1919844
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216220
Supporting Variants
SamplesNA19240
Known GenesSRL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260212
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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