A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558095



Internal ID15998818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31590385..31591155hg38UCSC Ensembl
Innerchr12:31743319..31744089hg19UCSC Ensembl
Innerchr12:31634586..31635356hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38771
hg19771
hg18771
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2474n54
Supporting Variantsnssv791686, nssv791685, nssv791689, nssv791688, nssv791687
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)nsv558095
Frequency
Sample Size17421
Observed Gain3
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer