A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270397



Internal ID22136402
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194620
Supporting Variants
SamplesHG00513
Known GenesCLASP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270397
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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