A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv711316



Internal ID16005272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:22564006..22564630hg38UCSC Ensembl
Innerchr1:22890499..22891123hg19UCSC Ensembl
Innerchr1:22763086..22763710hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38625
hg19625
hg18625
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv545766
Supporting Variants
Samples
Known GenesEPHA8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv711316
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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