A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052261



Internal ID18794792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31098380..31257350hg38UCSC Ensembl
Innerchr12:31251314..31410284hg19UCSC Ensembl
Innerchr12:31142581..31301551hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38158971
hg19158971
hg18158971
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1417n100
Supporting Variantsnssv3519087
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)nsv1052261
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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