A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048997



Internal ID18791528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:37463949..38577811hg38UCSC Ensembl
Innerchr12:37857751..38971613hg19UCSC Ensembl
Innerchr12:36144018..37257880hg18UCSC Ensembl
Cytoband12q11
Allele length
AssemblyAllele length
hg381113863
hg191113863
hg181113863
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1468n100
Supporting Variantsnssv3522869
Samples
Known GenesALG10B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048997
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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