A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052192



Internal ID18794723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:34620051..34759741hg38UCSC Ensembl
Innerchr11:34641598..34781288hg19UCSC Ensembl
Innerchr11:34598174..34737864hg18UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38139691
hg19139691
hg18139691
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1094n100
Supporting Variantsnssv3516121, nssv3710077, nssv3505623
Samples
Known GenesEHF
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052192
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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