A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv948137



Internal ID18594983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:92116895..92119506hg38UCSC Ensembl
Innerchr10:93876652..93879263hg19UCSC Ensembl
Innerchr10:93866632..93869243hg18UCSC Ensembl
Cytoband10q23.32
Allele length
AssemblyAllele length
hg382612
hg192612
hg182612
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1863927, nssv1863932, nssv1863931, nssv1863930, nssv1863933, nssv1863928, nssv1863926, nssv1863929, nssv1863925, nssv1863924
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCPEB3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv948137
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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