A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv948009



Internal ID18248169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:51932708..51934713hg38UCSC Ensembl
Innerchr10:53692468..53694473hg19UCSC Ensembl
Innerchr10:53362474..53364479hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg382006
hg192006
hg182006
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1850011, nssv1850014, nssv1850013, nssv1850016, nssv1850017, nssv1850018, nssv1850019, nssv1850020, nssv1850012, nssv1850015
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesPRKG1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv948009
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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