A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041819



Internal ID19131038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23975608..24019344hg38UCSC Ensembl
Innerchr14:24444817..24488553hg19UCSC Ensembl
Innerchr14:23514657..23558393hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3843737
hg1943737
hg1843737
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1842n100
Supporting Variantsnssv3528413
Samples
Known GenesDHRS4L1, DHRS4L2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1041819
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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