A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043523



Internal ID18786054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:44082672..44137619hg38UCSC Ensembl
Innerchr11:44104222..44159169hg19UCSC Ensembl
Innerchr11:44060798..44115745hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3854948
hg1954948
hg1854948
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3510042
Samples
Known GenesACCS, EXT2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043523
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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