A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039493



Internal ID18782024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:50476979..50687775hg38UCSC Ensembl
Innerchr14:50943697..51154493hg19UCSC Ensembl
Innerchr14:50013447..50224243hg18UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38210797
hg19210797
hg18210797
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3531018
Samples
Known GenesATL1, MAP4K5, SAV1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1039493
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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