A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv554203



Internal ID16341612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:46377988..46384947hg38UCSC Ensembl
Innerchr11:46399538..46406497hg19UCSC Ensembl
Innerchr11:46356114..46363073hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg386960
hg196960
hg186960
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv772795
Samples
Known GenesDGKZ, MDK
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv554203
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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