A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv948043



Internal ID18248203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:67793738..67796718hg38UCSC Ensembl
Innerchr10:69553496..69556476hg19UCSC Ensembl
Innerchr10:69223502..69226482hg18UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg382981
hg192981
hg182981
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1851586, nssv1851589, nssv1851585, nssv1851594, nssv1851590, nssv1851592, nssv1851587, nssv1851588, nssv1851593, nssv1851591
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDNAJC12
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv948043
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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