A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022586



Internal ID19111804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39378072..39504158hg38UCSC Ensembl
Innerchr8:39235591..39361677hg19UCSC Ensembl
Innerchr8:39354748..39480834hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38126087
hg19126087
hg18126087
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7170n100
Supporting Variantsnssv3685309, nssv3685300, nssv3685289, nssv3685305, nssv3685290, nssv3685306, nssv3685318, nssv3685287, nssv3685298, nssv3685279, nssv3685294, nssv3685297, nssv3685295, nssv3685322, nssv3685281, nssv3685310, nssv3760670, nssv3685313, nssv3685321, nssv3685283, nssv3685326, nssv3685317, nssv3685314, nssv3685304, nssv3685308, nssv3685323, nssv3685291, nssv3685280, nssv3685325, nssv3685301, nssv3685282, nssv3685324, nssv3685288, nssv3685315, nssv3685307, nssv3685320, nssv3685286, nssv3685285, nssv3685293, nssv3685312, nssv3685296, nssv3685311, nssv3685284, nssv3685278, nssv3685303, nssv3685319, nssv3685292, nssv3685299, nssv3685316, nssv3685302
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)nsv1022586
Frequency
Sample Size11257
Observed Gain44
Observed Loss6
Observed Complex0
Frequencyn/a


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