A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947930



Internal ID18248090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46414489..46417726hg38UCSC Ensembl
Innerchr10:47132029..47135259hg19UCSC Ensembl
Innerchr10:46552035..46555265hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg383238
hg193231
hg183231
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1844761, nssv1844763, nssv1844759, nssv1844765, nssv1844760, nssv1844767, nssv1844766, nssv1844768, nssv1844764, nssv1844762
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesHNRNPA1P33, LINC00842
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947930
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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