A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215723



Internal ID22361957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:40642988..40659895hg38UCSC Ensembl
Outerchr19:41148893..41165800hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3816908
hg1916908
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262526, nssv14262528, nssv14262529, nssv14262527
SamplesNA19238, HG00731, HG00732, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215723
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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