A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550716



Internal ID15991439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46870431..46987827hg38UCSC Ensembl
Innerchr10:46564642..46682030hg19UCSC Ensembl
Innerchr10:45984648..46102036hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38117397
hg19117389
hg18117389
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv747359
Samples
Known GenesFRMPD2P1, PTPN20A, PTPN20B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550716
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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