A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1036717



Internal ID19125936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23977496..24020217hg38UCSC Ensembl
Innerchr14:24446705..24489426hg19UCSC Ensembl
Innerchr14:23516545..23559266hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3842722
hg1942722
hg1842722
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1842n100
Supporting Variantsnssv3528434
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)nsv1036717
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer