A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265271



Internal ID22186467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:209965654..210002629hg38UCSC Ensembl
Outerchr2:210830378..210867353hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3836976
hg1936976
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203543
Supporting Variants
SamplesHG00731
Known GenesRPE, UNC80
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265271
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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