A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550712



Internal ID15991435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:44753495..44856082hg38UCSC Ensembl
Innerchr10:45248943..45351530hg19UCSC Ensembl
Innerchr10:44568949..44671536hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38102588
hg19102588
hg18102588
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1105n54
Supporting Variantsnssv747354, nssv747351, nssv747350, nssv747352, nssv747353
Samples
Known GenesTMEM72-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550712
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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