A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3510384



Internal ID18461979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30934823..31152256hg38UCSC Ensembl
Innerchr12:31087757..31305190hg19UCSC Ensembl
Innerchr12:30979024..31196457hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38217434
hg19217434
hg18217434
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1038745
Supporting Variants
Samples
Known GenesDDX11, DDX11-AS1, TSPAN11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3510384
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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