A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946556



Internal ID18593406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196787287..196792881hg38UCSC Ensembl
Innerchr1:196756417..196762011hg19UCSC Ensembl
Innerchr1:195023040..195028634hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg385595
hg195595
hg185595
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1811793, nssv1811789, nssv1811788, nssv1811796, nssv1811787, nssv1811792, nssv1811795, nssv1811790, nssv1811791, nssv1811794
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCFHR3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946556
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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