A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047236



Internal ID19136455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67577849..67996597hg38UCSC Ensembl
Innerchr11:67345320..67764068hg19UCSC Ensembl
Innerchr11:67101896..67520644hg18UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38418749
hg19418749
hg18418749
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1214n100
Supporting Variantsnssv3710613
Samples
Known GenesACY3, ALDH3B2, DOC2GP, FAM86C2P, GSTP1, NDUFV1, NUDT8, TBX10, UNC93B1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047236
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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