A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040813



Internal ID19130032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:45339921..45546503hg38UCSC Ensembl
Innerchr14:45809124..46015706hg19UCSC Ensembl
Innerchr14:44878874..45085456hg18UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38206583
hg19206583
hg18206583
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1905n100
Supporting Variantsnssv3530450, nssv3530452, nssv3530451, nssv3530453
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)nsv1040813
Frequency
Sample Size11257
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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