A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044261



Internal ID19133480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:45001..125087hg38UCSC Ensembl
Innerchr12:150430..234253hg19UCSC Ensembl
Innerchr12:20691..104514hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3880087
hg1983824
hg1883824
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1328n100
Supporting Variantsnssv3514035
Samples
Known GenesIQSEC3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044261
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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