A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946464



Internal ID18593314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161513788..161555015hg38UCSC Ensembl
Innerchr1:161483578..161524805hg19UCSC Ensembl
Innerchr1:159750202..159791429hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3841228
hg1941228
hg1841228
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1804527, nssv1804532, nssv1804531, nssv1804528, nssv1804530, nssv1804529, nssv1804534, nssv1804526, nssv1804535, nssv1804533
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFCGR2A, FCGR3A, HSPA6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946464
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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