A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049731



Internal ID18792262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:22676576..22795015hg38UCSC Ensembl
Innerchr14:23145785..23264224hg19UCSC Ensembl
Innerchr14:22215625..22334064hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38118440
hg19118440
hg18118440
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1836n100
Supporting Variantsnssv3532334, nssv3712163
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)nsv1049731
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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