A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558089



Internal ID15998812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31589529..31591155hg38UCSC Ensembl
Innerchr12:31742463..31744089hg19UCSC Ensembl
Innerchr12:31633730..31635356hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg381627
hg191627
hg181627
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv791668, nssv791667, nssv791666
Samples
Known GenesDENND5B, DENND5B-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558089
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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