A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947992



Internal ID18248152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46090524..46145248hg38UCSC Ensembl
Innerchr10:51450574..51505298hg19UCSC Ensembl
Innerchr10:51120580..51175304hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3854725
hg1954725
hg1854725
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1848430, nssv1848427, nssv1848435, nssv1848431, nssv1848428, nssv1848433, nssv1848429, nssv1848436, nssv1848434, nssv1848432
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesAGAP7
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947992
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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