A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042046



Internal ID19131265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:50135065..50678074hg38UCSC Ensembl
Innerchr11:50094236..50637245hg19UCSC Ensembl
Innerchr11:50050812..50593821hg18UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38543010
hg19543010
hg18543010
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1136n100
Supporting Variantsnssv3508928
Samples
Known GenesLOC441601, LOC646813
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042046
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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