A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv553634



Internal ID15994357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18426064..18520680hg38UCSC Ensembl
Innerchr11:18447611..18542227hg19UCSC Ensembl
Innerchr11:18404187..18498803hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3894617
hg1994617
hg1894617
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175083
SamplesHGDP00423
Known GenesLDHAL6A, LDHC, TSG101
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv553634
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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