A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064634



Internal ID19153853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:1580144..1613191hg38UCSC Ensembl
Innerchr20:1560790..1593837hg19UCSC Ensembl
Innerchr20:1508790..1541837hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3833048
hg1933048
hg1833048
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4233n100
Supporting Variantsnssv3594381, nssv3594377, nssv3594374, nssv3594358, nssv3594364, nssv3594371, nssv3594369, nssv3728495, nssv3594342, nssv3728497, nssv3594380, nssv3594375, nssv3594344, nssv3594350, nssv3594348, nssv3594368, nssv3594373, nssv3594357, nssv3594378, nssv3594355, nssv3594383, nssv3594353, nssv3594370, nssv3594365, nssv3594351, nssv3594345, nssv3594379, nssv3594361, nssv3594343, nssv3594382, nssv3594366, nssv3728498, nssv3594359, nssv3594367, nssv3594354, nssv3594346, nssv3594372, nssv3594352, nssv3594362, nssv3594347, nssv3594356, nssv3594360, nssv3594349, nssv3594376, nssv3594363, nssv3728496
Samples
Known GenesSIRPB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064634
Frequency
Sample Size11257
Observed Gain40
Observed Loss6
Observed Complex0
Frequencyn/a


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