A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043912



Internal ID18786443
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 StatusM
Merged Variantsdgv1228n100
Supporting Variantsnssv3507457
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)nsv1043912
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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