A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556570



Internal ID15997293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:130070036..130071126hg38UCSC Ensembl
Innerchr11:129939931..129941021hg19UCSC Ensembl
Innerchr11:129445141..129446231hg18UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg381091
hg191091
hg181091
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2199n54
Supporting Variantsnssv785106
Samples
Known GenesAPLP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556570
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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