A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550875



Internal ID15991598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:52083614..52163651hg38UCSC Ensembl
Innerchr10:53843374..53923411hg19UCSC Ensembl
Innerchr10:53513380..53593417hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3880038
hg1980038
hg1880038
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv747854
Samples
Known GenesPRKG1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550875
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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