A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947916



Internal ID18594762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:45769503..45792769hg38UCSC Ensembl
Innerchr10:46264951..46288217hg19UCSC Ensembl
Innerchr10:45584957..45608223hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg3823267
hg1923267
hg1823267
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1845335, nssv1845339, nssv1846207, nssv1846210, nssv1846206, nssv1845337, nssv1845338, nssv1845336, nssv1846209, nssv1846208
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFAM21C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947916
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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