A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550874



Internal ID15991597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:52056411..52081345hg38UCSC Ensembl
Innerchr10:53816171..53841105hg19UCSC Ensembl
Innerchr10:53486177..53511111hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3824935
hg1924935
hg1824935
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1134n54
Supporting Variantsnssv747853
Samples
Known GenesPRKG1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550874
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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