A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022488



Internal ID19111706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39389144..39539496hg38UCSC Ensembl
Innerchr8:39246663..39397015hg19UCSC Ensembl
Innerchr8:39365820..39516172hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38150353
hg19150353
hg18150353
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7175n100
Supporting Variantsnssv3687909, nssv3687910, nssv3687907, nssv3687908
Samples
Known GenesADAM3A, ADAM5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022488
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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