A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3507457



Internal ID18459052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:76590272..76728051hg38UCSC Ensembl
Innerchr11:76301316..76439095hg19UCSC Ensembl
Innerchr11:75978964..76116743hg18UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38137780
hg19137780
hg18137780
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1043912
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)nssv3507457
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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