A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv552223



Internal ID15992946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:120467487..120469022hg38UCSC Ensembl
Innerchr10:122226999..122228534hg19UCSC Ensembl
Innerchr10:122216989..122218524hg18UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg381536
hg191536
hg181536
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv760274, nssv760275, nssv760273
Samples
Known GenesPPAPDC1A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv552223
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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