A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550860



Internal ID15991583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:51444749..51452231hg38UCSC Ensembl
Innerchr10:53204509..53211991hg19UCSC Ensembl
Innerchr10:52874515..52881997hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg387483
hg197483
hg187483
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1131n54
Supporting Variantsnssv747838, nssv747836, nssv747834, nssv747833, nssv747835, nssv747837
Samples
Known GenesPRKG1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550860
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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