A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3482534



Internal ID19070267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:92060073..92130112hg38UCSC Ensembl
Innerchr1:92525630..92595669hg19UCSC Ensembl
Innerchr1:92298218..92368257hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg3870040
hg1970040
hg1870040
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009079
Supporting Variants
Samples
Known GenesBTBD8, EPHX4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3482534
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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