A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054993



Internal ID19144212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18918534..18940259hg38UCSC Ensembl
Innerchr11:18940081..18961806hg19UCSC Ensembl
Innerchr11:18896657..18918382hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3821726
hg1921726
hg1821726
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1063n100
Supporting Variantsnssv3505558, nssv3510369
Samples
Known GenesMRGPRX1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054993
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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