A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3675466



Internal ID18973747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:4464712..5736610hg38UCSC Ensembl
Innerchr8:4322234..5594132hg19UCSC Ensembl
Innerchr8:4309642..5581540hg18UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg381271899
hg191271899
hg181271899
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1025417
Supporting Variants
Samples
Known GenesCSMD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3675466
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