A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1025417



Internal ID19114635
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 StatusM
Merged Variants
Supporting Variantsnssv3675466
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)nsv1025417
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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