A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3517421



Internal ID18469016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:77705600..78076956hg38UCSC Ensembl
Innerchr11:77416645..77788002hg19UCSC Ensembl
Innerchr11:77094293..77465650hg18UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38371357
hg19371358
hg18371358
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1050891
Supporting Variants
Samples
Known GenesAAMDC, INTS4, KCTD14, NDUFC2, NDUFC2-KCTD14, RNU6-83P, RSF1, THRSP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3517421
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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