A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264086



Internal ID22268678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:63859871..63865004hg38UCSC Ensembl
Outerchr2:64087005..64092138hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg385134
hg195134
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205252
Supporting Variants
SamplesNA19238
Known GenesUGP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264086
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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