A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550882



Internal ID15991605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:52256302..52257391hg38UCSC Ensembl
Innerchr10:54016062..54017151hg19UCSC Ensembl
Innerchr10:53686068..53687157hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg381090
hg191090
hg181090
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1136n54
Supporting Variantsnssv747864, nssv747866, nssv747865
Samples
Known GenesPRKG1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550882
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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