A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051441



Internal ID18793972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:22683850..22803700hg38UCSC Ensembl
Innerchr14:23153059..23272909hg19UCSC Ensembl
Innerchr14:22222899..22342749hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38119851
hg19119851
hg18119851
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1836n100
Supporting Variantsnssv3532335
Samples
Known GenesOXA1L, SLC7A7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051441
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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