A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946463



Internal ID18593313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161509916..161513065hg38UCSC Ensembl
Innerchr1:161479706..161482855hg19UCSC Ensembl
Innerchr1:159746330..159749479hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg383150
hg193150
hg183150
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1803958, nssv1803954, nssv1803963, nssv1803957, nssv1803962, nssv1803959, nssv1803960, nssv1803955, nssv1803956, nssv1803961
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFCGR2A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946463
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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