A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034974



Internal ID18777505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180953191..181015429hg38UCSC Ensembl
Innerchr5:180380191..180442429hg19UCSC Ensembl
Innerchr5:180312797..180375035hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3862239
hg1962239
hg1862239
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5854n100
Supporting Variantsnssv3650315
Samples
Known GenesBTNL3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034974
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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