A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv747359



Internal ID15694629
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 StatusS
Merged Variantsnsv550716
Supporting Variants
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)nssv747359
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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