A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210982



Internal ID22358692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:19707184..19745135hg38UCSC Ensembl
Outerchr19:19817993..19855944hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3837952
hg1937952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262473, nssv14262472
SamplesNA19238, NA19240
Known GenesZNF14
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210982
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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