A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047524



Internal ID19136743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:198510..237600hg38UCSC Ensembl
Innerchr11:198510..237600hg19UCSC Ensembl
Innerchr11:188510..227600hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3839091
hg1939091
hg1839091
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1010n100
Supporting Variantsnssv3518722
Samples
Known GenesBET1L, MIR6743, ODF3, PSMD13, RIC8A, SIRT3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047524
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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