A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195437



Internal ID22345623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:24798207..24863773hg38UCSC Ensembl
Outerchr1:25124698..25190264hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3865567
hg1965567
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257112, nssv14257111
SamplesHG00733, HG00514
Known GenesCLIC4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195437
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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