A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945929



Internal ID18246093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:47113079..47151823hg38UCSC Ensembl
Innerchr1:47578751..47617495hg19UCSC Ensembl
Innerchr1:47351338..47390082hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3838745
hg1938745
hg1838745
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1763640, nssv1763638, nssv1763639, nssv1763643, nssv1763635, nssv1763641, nssv1763636, nssv1763642, nssv1763637, nssv1763644
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesCYP4A22, CYP4Z1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945929
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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