A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv553584



Internal ID15994307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:17386478..17418926hg38UCSC Ensembl
Innerchr11:17408025..17440473hg19UCSC Ensembl
Innerchr11:17364601..17397049hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3832449
hg1932449
hg1832449
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175080
SamplesNINDS_49
Known GenesABCC8, KCNJ11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv553584
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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