A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059149



Internal ID19148368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:80652..92893hg38UCSC Ensembl
Innerchr20:61293..73534hg19UCSC Ensembl
Innerchr20:9293..21534hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3812242
hg1912242
hg1812242
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4218n100
Supporting Variantsnssv3589934, nssv3589928, nssv3589937, nssv3589933, nssv3589929, nssv3589930, nssv3589931, nssv3589932, nssv3589936, nssv3589935
Samples
Known GenesDEFB125
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059149
Frequency
Sample Size11257
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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