A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558093



Internal ID15998816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31590260..31591155hg38UCSC Ensembl
Innerchr12:31743194..31744089hg19UCSC Ensembl
Innerchr12:31634461..31635356hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38896
hg19896
hg18896
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2474n54
Supporting Variantsnssv791678, nssv791682, nssv791680, nssv791677, nssv791683, nssv791681, nssv791676, nssv791679
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)nsv558093
Frequency
Sample Size17421
Observed Gain7
Observed Loss1
Observed Complex0
Frequencyn/a


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