A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030563



Internal ID18773094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39378072..39541712hg38UCSC Ensembl
Innerchr8:39235591..39399231hg19UCSC Ensembl
Innerchr8:39354748..39518388hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38163641
hg19163641
hg18163641
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7166n100
Supporting Variantsnssv3687606, nssv3687608, nssv3687605, nssv3687609, nssv3687610, nssv3687607, nssv3756653, nssv3687604, nssv3687603
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)nsv1030563
Frequency
Sample Size29084
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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