A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053769



Internal ID19142988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:50135065..50654230hg38UCSC Ensembl
Innerchr11:50094236..50613401hg19UCSC Ensembl
Innerchr11:50050812..50569977hg18UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38519166
hg19519166
hg18519166
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1136n100
Supporting Variantsnssv3515880, nssv3503503, nssv3504083
Samples
Known GenesLOC441601, LOC646813
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053769
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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