A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv948046



Internal ID18594892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:68002519..68014142hg38UCSC Ensembl
Innerchr10:69762276..69773899hg19UCSC Ensembl
Innerchr10:69432282..69443905hg18UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg3811624
hg1911624
hg1811624
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1852939, nssv1852937, nssv1852940, nssv1852938, nssv1852942, nssv1852944, nssv1852943, nssv1852936, nssv1852945, nssv1852941
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHERC4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv948046
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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