A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945765



Internal ID18592616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9573576..9579057hg38UCSC Ensembl
Innerchr1:9633634..9639115hg19UCSC Ensembl
Innerchr1:9556221..9561702hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg385482
hg195482
hg185482
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1753489, nssv1753486, nssv1753491, nssv1753487, nssv1753488, nssv1754724, nssv1753485, nssv1753483, nssv1753490, nssv1753484
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSLC25A33
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945765
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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