A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv948147



Internal ID18248307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:95995352..96001305hg38UCSC Ensembl
Innerchr10:97755109..97761062hg19UCSC Ensembl
Innerchr10:97745099..97751052hg18UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg385954
hg195954
hg185954
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1862729, nssv1862727, nssv1862730, nssv1862731, nssv1862726, nssv1862732, nssv1862725, nssv1862724, nssv1862728, nssv1862733
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCC2D2B, ENTPD1-AS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv948147
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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