A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053143



Internal ID18795674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:100131604..100194983hg38UCSC Ensembl
Innerchr14:100597941..100661320hg19UCSC Ensembl
Innerchr14:99667694..99731073hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3863380
hg1963380
hg1863380
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1969n100
Supporting Variantsnssv3711391
Samples
Known GenesDEGS2, EVL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053143
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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