A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550887



Internal ID15991610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:52256302..52258532hg38UCSC Ensembl
Innerchr10:54016062..54018292hg19UCSC Ensembl
Innerchr10:53686068..53688298hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg382231
hg192231
hg182231
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1138n54
Supporting Variantsnssv748076, nssv748078, nssv748077
Samples
Known GenesPRKG1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550887
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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