A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv948219



Internal ID18248379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:124992440..124994765hg38UCSC Ensembl
Innerchr10:126681009..126683334hg19UCSC Ensembl
Innerchr10:126670999..126673324hg18UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg382326
hg192326
hg182326
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1869532, nssv1869537, nssv1869534, nssv1869533, nssv1869539, nssv1869541, nssv1869535, nssv1869540, nssv1869538, nssv1869536
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCTBP2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv948219
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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