A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000761



Internal ID19089978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68509211..68639385hg38UCSC Ensembl
Innerchr4:69374929..69505103hg19UCSC Ensembl
Innerchr4:69057524..69187698hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38130175
hg19130175
hg18130175
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5264n100
Supporting Variantsnssv3629377, nssv3744745, nssv3629368, nssv3629366, nssv3629328, nssv3629381, nssv3744728, nssv3629369, nssv3744722, nssv3629345, nssv3744738, nssv3629340, nssv3629383, nssv3629380, nssv3629365, nssv3744724, nssv3629342, nssv3629325, nssv3629378, nssv3629354, nssv3629382, nssv3744733, nssv3629332, nssv3629338, nssv3629326, nssv3744732, nssv3631602, nssv3629384, nssv3629331, nssv3744731, nssv3629341, nssv3744742, nssv3629339, nssv3744734, nssv3744748, nssv3744720, nssv3629343, nssv3629360, nssv3629335, nssv3629334, nssv3629387, nssv3631603, nssv3629330, nssv3744726, nssv3629348, nssv3629351, nssv3744730, nssv3629336, nssv3744718, nssv3629344, nssv3629385, nssv3629349, nssv3744723, nssv3744727, nssv3631607, nssv3629375, nssv3629329, nssv3631604, nssv3629379, nssv3744719, nssv3629358, nssv3629333, nssv3629374, nssv3744737, nssv3629363, nssv3744744, nssv3744736, nssv3629367, nssv3629350, nssv3629371, nssv3629364, nssv3629376, nssv3744746, nssv3744735, nssv3744729, nssv3629362, nssv3744747, nssv3629337, nssv3629352, nssv3744725, nssv3631605, nssv3631606, nssv3629356, nssv3744721, nssv3629361, nssv3629373, nssv3629357, nssv3629327, nssv3744739, nssv3629372, nssv3629353, nssv3629324, nssv3744740, nssv3629386, nssv3744743, nssv3629359, nssv3629355, nssv3744741, nssv3629346, nssv3629347, nssv3629370
Samples
Known GenesUGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000761
Frequency
Sample Size11257
Observed Gain97
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer