A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv552288



Internal ID15993011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:124605790..124621473hg38UCSC Ensembl
Innerchr10:126294359..126310042hg19UCSC Ensembl
Innerchr10:126284349..126300032hg18UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg3815684
hg1915684
hg1815684
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174577
SamplesHGDP00546
Known GenesFAM53B, LHPP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv552288
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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