A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv972452



Internal ID18260982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:127446981..127450055hg38UCSC Ensembl
Innerchr9:130209260..130212334hg19UCSC Ensembl
Innerchr9:129249081..129252155hg18UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg383075
hg193075
hg183075
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2568423, nssv2568426, nssv2568429, nssv2568428, nssv2568425, nssv2568421, nssv2568427, nssv2568424, nssv2568420, nssv2568422
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPL12, SNORA65
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv972452
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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