A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3645991



Internal ID18944272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:104453444..105513077hg38UCSC Ensembl
Innerchr5:103789145..104848778hg19UCSC Ensembl
Innerchr5:103817044..104876677hg18UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg381059634
hg191059634
hg181059634
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1027333
Supporting Variants
Samples
Known GenesRAB9BP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3645991
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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