A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv748114



Internal ID15695384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:52256737..52264069hg38UCSC Ensembl
Innerchr10:54016497..54023829hg19UCSC Ensembl
Innerchr10:53686503..53693835hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg387333
hg197333
hg187333
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv550900
Supporting Variants
Samples
Known GenesPRKG1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv748114
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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