A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194620



Internal ID22344910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:33495734..33512769hg38UCSC Ensembl
Outerchr3:33537226..33554261hg19UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg3817036
hg1917036
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270398, nssv14270397
SamplesNA19238, HG00513
Known GenesCLASP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194620
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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