A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv552220



Internal ID16339629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:120467056..120469022hg38UCSC Ensembl
Innerchr10:122226568..122228534hg19UCSC Ensembl
Innerchr10:122216558..122218524hg18UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg381967
hg191967
hg181967
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1404n54
Supporting Variantsnssv758800, nssv758813, nssv758807, nssv758805, nssv758811, nssv758810, nssv758804, nssv758803, nssv758802, nssv758809, nssv758801, nssv758806, nssv758808, nssv758812
Samples
Known GenesPPAPDC1A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv552220
Frequency
Sample Size17421
Observed Gain13
Observed Loss1
Observed Complex0
Frequencyn/a


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