A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040945



Internal ID19130164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:40574713..40692338hg38UCSC Ensembl
Innerchr14:41043918..41161543hg19UCSC Ensembl
Innerchr14:40113668..40231293hg18UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38117626
hg19117626
hg18117626
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3530149
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040945
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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