A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042753



Internal ID19131972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23960089..24015250hg38UCSC Ensembl
Innerchr14:24429298..24484459hg19UCSC Ensembl
Innerchr14:23499138..23554299hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3855162
hg1955162
hg1855162
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1839n100
Supporting Variantsnssv3533856, nssv3533854, nssv3533857, nssv3533855, nssv3533858, nssv3712165, nssv3533859, nssv3533853, nssv3712166
Samples
Known GenesDHRS4, DHRS4L1, DHRS4L2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042753
Frequency
Sample Size11257
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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