A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052180



Internal ID18794711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23960089..24086501hg38UCSC Ensembl
Innerchr14:24429298..24555710hg19UCSC Ensembl
Innerchr14:23499138..23625550hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38126413
hg19126413
hg18126413
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3533868
Samples
Known GenesCPNE6, DHRS4, DHRS4L1, DHRS4L2, LRRC16B, NRL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052180
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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