A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053293



Internal ID18795824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:50222199..50342889hg38UCSC Ensembl
Innerchr10:51981959..52102649hg19UCSC Ensembl
Innerchr10:51651965..51772655hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg38120691
hg19120691
hg18120691
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3522292
Samples
Known GenesASAH2, SGMS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053293
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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