A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3648034



Internal ID18946315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:121037623..121248357hg38UCSC Ensembl
Innerchr5:120373318..120584052hg19UCSC Ensembl
Innerchr5:120401217..120611951hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38210735
hg19210735
hg18210735
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1020158
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3648034
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