A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052514



Internal ID18795045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:59032901..59087561hg38UCSC Ensembl
Innerchr11:58800374..58855034hg19UCSC Ensembl
Innerchr11:58556950..58611610hg18UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3854661
hg1954661
hg1854661
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1208n100
Supporting Variantsnssv3506151, nssv3508137
Samples
Known GenesLOC283194
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052514
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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