A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046514



Internal ID18789045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:444925..524251hg38UCSC Ensembl
Innerchr12:554091..633417hg19UCSC Ensembl
Innerchr12:424352..503678hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3879327
hg1979327
hg1879327
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3513037
Samples
Known GenesB4GALNT3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046514
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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