A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042917



Internal ID19132136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23957385..24010488hg38UCSC Ensembl
Innerchr14:24426594..24479697hg19UCSC Ensembl
Innerchr14:23496434..23549537hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3853104
hg1953104
hg1853104
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1839n100
Supporting Variantsnssv3533831, nssv3533830, nssv3533832
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)nsv1042917
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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