A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053066



Internal ID18795597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:2829552..2872696hg38UCSC Ensembl
Innerchr11:2850782..2893926hg19UCSC Ensembl
Innerchr11:2807358..2850502hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3843145
hg1943145
hg1843145
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3521455
Samples
Known GenesKCNQ1, KCNQ1DN
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053066
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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