A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049467



Internal ID19138686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:93917859..94045551hg38UCSC Ensembl
Innerchr11:93651025..93778717hg19UCSC Ensembl
Innerchr11:93290673..93418365hg18UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg38127693
hg19127693
hg18127693
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3515997
Samples
Known GenesHEPHL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049467
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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