A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264650



Internal ID22257732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:105820606..105826223hg38UCSC Ensembl
Outerchr2:106437062..106442679hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg385618
hg195618
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200014
Supporting Variants
SamplesNA19238
Known GenesNCK2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264650
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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