A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1037537



Internal ID18780068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:2409367..2810311hg38UCSC Ensembl
Innerchr11:2430597..2831541hg19UCSC Ensembl
Innerchr11:2387173..2788117hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38400945
hg19400945
hg18400945
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3505084
Samples
Known GenesKCNQ1, KCNQ1OT1, TRPM5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1037537
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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