A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214466



Internal ID22361117
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262475, nssv14262474
SamplesNA19238, NA19240
Known GenesZNF100
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214466
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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