A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041834



Internal ID19131053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23975608..24010488hg38UCSC Ensembl
Innerchr14:24444817..24479697hg19UCSC Ensembl
Innerchr14:23514657..23549537hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3834881
hg1934881
hg1834881
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1842n100
Supporting Variantsnssv3712172, nssv3712181, nssv3712173, nssv3712178, nssv3533882, nssv3533874, nssv3712177, nssv3712171, nssv3533877, nssv3533871, nssv3533878, nssv3712175, nssv3533875, nssv3533887, nssv3533876, nssv3712176, nssv3533872, nssv3533885, nssv3533888, nssv3533870, nssv3533886, nssv3533884, nssv3533880, nssv3533881, nssv3712179, nssv3712174, nssv3533883, nssv3712180, nssv3533879, nssv3533873, nssv3712170
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)nsv1041834
Frequency
Sample Size11257
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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