A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028511



Internal ID18771042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39372652..39517627hg38UCSC Ensembl
Innerchr8:39230171..39375146hg19UCSC Ensembl
Innerchr8:39349328..39494303hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38144976
hg19144976
hg18144976
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7166n100
Supporting Variantsnssv3685675, nssv3685673, nssv3685672, nssv3685671, nssv3685677, nssv3685676, nssv3685674
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)nsv1028511
Frequency
Sample Size29084
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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