A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053120



Internal ID18795651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:4251220..4444407hg38UCSC Ensembl
Innerchr11:4272450..4465637hg19UCSC Ensembl
Innerchr11:4229026..4422213hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38193188
hg19193188
hg18193188
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3521529
Samples
Known GenesOR52B4, TRIM21
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053120
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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