A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550872



Internal ID15991595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:51796233..51842430hg38UCSC Ensembl
Innerchr10:53555993..53602190hg19UCSC Ensembl
Innerchr10:53225999..53272196hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3846198
hg1946198
hg1846198
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174546
Samples1780862176_A
Known GenesPRKG1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550872
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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