A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028070



Internal ID19117288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39389580..39505415hg38UCSC Ensembl
Innerchr8:39247099..39362934hg19UCSC Ensembl
Innerchr8:39366256..39482091hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38115836
hg19115836
hg18115836
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7170n100
Supporting Variantsnssv3756686, nssv3689027, nssv3689028, nssv3689026
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)nsv1028070
Frequency
Sample Size11257
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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