A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550869



Internal ID15991592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:51502873..51535254hg38UCSC Ensembl
Innerchr10:53262633..53295014hg19UCSC Ensembl
Innerchr10:52932639..52965020hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3832382
hg1932382
hg1832382
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174544
Samples1782681210_A
Known GenesPRKG1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550869
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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