A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028352



Internal ID19117570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39378072..39527438hg38UCSC Ensembl
Innerchr8:39235591..39384957hg19UCSC Ensembl
Innerchr8:39354748..39504114hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38149367
hg19149367
hg18149367
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7166n100
Supporting Variantsnssv3686090, nssv3686094, nssv3686093, nssv3686091, nssv3686092, nssv3686095
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)nsv1028352
Frequency
Sample Size11257
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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