A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053330



Internal ID18795861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:24438841..24524460hg38UCSC Ensembl
Innerchr14:24908047..24993666hg19UCSC Ensembl
Innerchr14:23977887..24063506hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3885620
hg1985620
hg1885620
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1854n100
Supporting Variantsnssv3528524
Samples
Known GenesCMA1, KHNYN, SDR39U1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053330
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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