A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv716146



Internal ID15663416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:68405344..68466239hg38UCSC Ensembl
Innerchr1:68871027..68931922hg19UCSC Ensembl
Innerchr1:68643615..68704510hg18UCSC Ensembl
Cytoband1p31.2
Allele length
AssemblyAllele length
hg3860896
hg1960896
hg1860896
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546450
Supporting Variants
Samples
Known GenesRPE65
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv716146
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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