A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030284



Internal ID18772815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39368512..39512943hg38UCSC Ensembl
Innerchr8:39226031..39370462hg19UCSC Ensembl
Innerchr8:39345188..39489619hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38144432
hg19144432
hg18144432
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7166n100
Supporting Variantsnssv3685626
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)nsv1030284
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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