A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020771



Internal ID19109989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39389580..39526593hg38UCSC Ensembl
Innerchr8:39247099..39384112hg19UCSC Ensembl
Innerchr8:39366256..39503269hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38137014
hg19137014
hg18137014
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7170n100
Supporting Variantsnssv3689041, nssv3756697, nssv3689034, nssv3689038, nssv3689037, nssv3756698, nssv3689033, nssv3689036, nssv3689040, nssv3756699, nssv3689031, nssv3689039, nssv3689035, nssv3689032
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)nsv1020771
Frequency
Sample Size11257
Observed Gain6
Observed Loss8
Observed Complex0
Frequencyn/a


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