A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021136



Internal ID18763670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:49327369..49663565hg38UCSC Ensembl
Innerchr6:49295037..49631278hg19UCSC Ensembl
Innerchr6:49402996..49739237hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38336197
hg19336242
hg18336242
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5960n100
Supporting Variantsnssv3657451
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)nsv1021136
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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