A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv948047



Internal ID18594893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:68499326..68502449hg38UCSC Ensembl
Innerchr10:70259083..70262206hg19UCSC Ensembl
Innerchr10:69929089..69932212hg18UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg383124
hg193124
hg183124
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1853038, nssv1853042, nssv1853037, nssv1853034, nssv1853039, nssv1853041, nssv1853033, nssv1853035, nssv1853040, nssv1853036
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSLC25A16
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv948047
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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