A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946468



Internal ID18246632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161594892..161670153hg38UCSC Ensembl
Innerchr1:161564682..161639943hg19UCSC Ensembl
Innerchr1:159831306..159906567hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3875262
hg1975262
hg1875262
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1805625, nssv1805634, nssv1805631, nssv1805627, nssv1805626, nssv1805628, nssv1805630, nssv1805632, nssv1805629, nssv1805633
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFCGR2B, FCGR2C, FCGR3B, HSPA7
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946468
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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