A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3502490



Internal ID18454085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:121441013..121602283hg38UCSC Ensembl
Innerchr1:121182871..121344081hg19UCSC Ensembl
Innerchr1:120884394..121045604hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38161271
hg19161211
hg18161211
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009403
Supporting Variants
Samples
Known GenesEMBP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3502490
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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