A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv554210



Internal ID15994933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:47359042..47427993hg38UCSC Ensembl
Innerchr11:47380593..47449544hg19UCSC Ensembl
Innerchr11:47337169..47406120hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3868952
hg1968952
hg1868952
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv773217
Samples
Known GenesPSMC3, SLC39A13, SPI1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv554210
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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