A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3675323



Internal ID18626918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2901778..3054246hg38UCSC Ensembl
Innerchr8:2759300..2911768hg19UCSC Ensembl
Innerchr8:2746707..2899175hg18UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38152469
hg19152469
hg18152469
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1034294
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)nssv3675323
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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