A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192852



Internal ID22343382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:5696622..5707776hg38UCSC Ensembl
Outerchr2:5836754..5847908hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3811155
hg1911155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264840
SamplesNA19238
Known GenesSOX11
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192852
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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