A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550811



Internal ID16338220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:48194041..48368835hg38UCSC Ensembl
Innerchr10:49402084..49576878hg19UCSC Ensembl
Innerchr10:49072090..49246884hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38174795
hg19174795
hg18174795
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174541
SamplesHGDP01330
Known GenesFRMPD2, MAPK8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550811
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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