A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv948218



Internal ID18248378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:124987869..124990379hg38UCSC Ensembl
Innerchr10:126676438..126678948hg19UCSC Ensembl
Innerchr10:126666428..126668938hg18UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg382511
hg192511
hg182511
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1869444, nssv1869435, nssv1869438, nssv1869441, nssv1869437, nssv1869440, nssv1869442, nssv1869436, nssv1869443, nssv1869439
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)nsv948218
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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