A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029394



Internal ID19118613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39389144..39504158hg38UCSC Ensembl
Innerchr8:39246663..39361677hg19UCSC Ensembl
Innerchr8:39365820..39480834hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38115015
hg19115015
hg18115015
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7167n100
Supporting Variantsnssv3687619
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)nsv1029394
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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