A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050832



Internal ID19140051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23989423..24020055hg38UCSC Ensembl
Innerchr14:24458632..24489264hg19UCSC Ensembl
Innerchr14:23528472..23559104hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3830633
hg1930633
hg1830633
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1846n100
Supporting Variantsnssv3528448
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)nsv1050832
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