A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044931



Internal ID19134150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:33027023..33154428hg38UCSC Ensembl
Innerchr12:33179957..33307362hg19UCSC Ensembl
Innerchr12:33071224..33198629hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg38127406
hg19127406
hg18127406
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3511430
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)nsv1044931
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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