A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3518554



Internal ID18470149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31104761..31254177hg38UCSC Ensembl
Innerchr12:31257695..31407111hg19UCSC Ensembl
Innerchr12:31148962..31298378hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38149417
hg19149417
hg18149417
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1044047
Supporting Variants
Samples
Known GenesDDX11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3518554
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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