A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021782



Internal ID19111000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39393441..39499344hg38UCSC Ensembl
Innerchr8:39250960..39356863hg19UCSC Ensembl
Innerchr8:39370117..39476020hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38105904
hg19105904
hg18105904
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7167n100
Supporting Variantsnssv3685758, nssv3685757
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)nsv1021782
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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