A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947983



Internal ID18248143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:49864443..49871423hg38UCSC Ensembl
Innerchr10:51072489..51079469hg19UCSC Ensembl
Innerchr10:50742495..50749475hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg386981
hg196981
hg186981
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1846839, nssv1846836, nssv1846833, nssv1846838, nssv1846840, nssv1846837, nssv1846835, nssv1846841, nssv1846834, nssv1846842
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesPARG
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947983
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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