A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947995



Internal ID18248155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:45923082..45995724hg38UCSC Ensembl
Innerchr10:51600098..51672745hg19UCSC Ensembl
Innerchr10:51270104..51342751hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3872643
hg1972648
hg1872648
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1847910, nssv1847914, nssv1847918, nssv1847915, nssv1847911, nssv1847917, nssv1847916, nssv1847912, nssv1847913, nssv1847919
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesTIMM23
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947995
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer