A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023953



Internal ID18766486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:76535212..76617959hg38UCSC Ensembl
Innerchr5:75831037..75913784hg19UCSC Ensembl
Innerchr5:75866793..75949540hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3882748
hg1982748
hg1882748
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5702n100
Supporting Variantsnssv3639012
Samples
Known GenesF2RL2, IQGAP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023953
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