A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973118



Internal ID18261647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111581440..111586882hg38UCSC Ensembl
Innerchr12:112019244..112024686hg19UCSC Ensembl
Innerchr12:110503627..110509069hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg385443
hg195443
hg185443
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1944407, nssv1944408, nssv1944410, nssv1944402, nssv1944406, nssv1944405, nssv1944401, nssv1944409, nssv1944404, nssv1944403
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesATXN2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973118
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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