A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024959



Internal ID18767491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:49322472..49684411hg38UCSC Ensembl
Innerchr6:49290141..49652124hg19UCSC Ensembl
Innerchr6:49398100..49760083hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38361940
hg19361984
hg18361984
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5960n100
Supporting Variantsnssv3657450
Samples
Known GenesC6orf141, CENPQ, GLYATL3, MUT, RHAG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024959
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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