A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558096



Internal ID15998819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31590431..31591002hg38UCSC Ensembl
Innerchr12:31743365..31743936hg19UCSC Ensembl
Innerchr12:31634632..31635203hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38572
hg19572
hg18572
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2475n54
Supporting Variantsnssv791690, nssv791691
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)nsv558096
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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