A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1038502



Internal ID19127721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:33957674..34635029hg38UCSC Ensembl
Innerchr12:34110609..34787964hg19UCSC Ensembl
Innerchr12:34001876..34679231hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg38677356
hg19677356
hg18677356
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1437n100
Supporting Variantsnssv3510141
Samples
Known GenesALG10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1038502
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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