A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047553



Internal ID19136772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:33136012..33149716hg38UCSC Ensembl
Innerchr12:33288946..33302650hg19UCSC Ensembl
Innerchr12:33180213..33193917hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg3813705
hg1913705
hg1813705
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3518754
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047553
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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