A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040579



Internal ID18783110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:466467..652394hg38UCSC Ensembl
Innerchr12:575633..761560hg19UCSC Ensembl
Innerchr12:445894..631821hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38185928
hg19185928
hg18185928
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3507785
Samples
Known GenesB4GALNT3, NINJ2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040579
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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