A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257111



Internal ID22144896
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195437
Supporting Variants
SamplesHG00514
Known GenesCLIC4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257111
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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