A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550886



Internal ID15991609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:52256302..52258481hg38UCSC Ensembl
Innerchr10:54016062..54018241hg19UCSC Ensembl
Innerchr10:53686068..53688247hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg382180
hg192180
hg182180
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1138n54
Supporting Variantsnssv748074, nssv748075, nssv748073
Samples
Known GenesPRKG1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550886
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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