A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044509



Internal ID19133728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7978362..8029464hg38UCSC Ensembl
Innerchr12:8130958..8182060hg19UCSC Ensembl
Innerchr12:8022225..8073327hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3851103
hg1951103
hg1851103
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3516198
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)nsv1044509
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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