A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020383



Internal ID19109602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39378072..39531248hg38UCSC Ensembl
Innerchr8:39235591..39388767hg19UCSC Ensembl
Innerchr8:39354748..39507924hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38153177
hg19153177
hg18153177
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7170n100
Supporting Variantsnssv3756629, nssv3686207, nssv3686209, nssv3686206, nssv3686204, nssv3686213, nssv3686210, nssv3686211, nssv3686205, nssv3686212, nssv3686208, nssv3686203
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)nsv1020383
Frequency
Sample Size11257
Observed Gain11
Observed Loss1
Observed Complex0
Frequencyn/a


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