A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262475



Internal ID22329635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21687088..21737804hg38UCSC Ensembl
Outerchr19:21869890..21920606hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg3850717
hg1950717
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214466
Supporting Variants
SamplesNA19240
Known GenesZNF100
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262475
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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