A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264396



Internal ID22202943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:160059863..160137896hg38UCSC Ensembl
Outerchr2:160916374..160994407hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3878034
hg1978034
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206811
Supporting Variants
SamplesHG00732
Known GenesITGB6, PLA2R1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264396
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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