A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265478



Internal ID22120836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:46922746..46935367hg38UCSC Ensembl
Outerchr2:47149885..47162506hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3812622
hg1912622
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201200
Supporting Variants
SamplesHG00512
Known GenesMCFD2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265478
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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