A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3516839



Internal ID18468434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:76656642..76709769hg38UCSC Ensembl
Innerchr11:76367686..76420813hg19UCSC Ensembl
Innerchr11:76045334..76098461hg18UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg3853128
hg1953128
hg1853128
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1047069
Supporting Variants
Samples
Known GenesGUCY2EP, LRRC32
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3516839
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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