A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947727



Internal ID18247888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:4971601..5011656hg38UCSC Ensembl
Innerchr10:5013793..5053848hg19UCSC Ensembl
Innerchr10:5003793..5043848hg18UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg3840056
hg1940056
hg1840056
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1831702, nssv1831703, nssv1831698, nssv1831701, nssv1831700, nssv1831697, nssv1831699, nssv1831705, nssv1831706, nssv1831704
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesAKR1C1, AKR1C2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947727
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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