A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973113



Internal ID18261642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:104028163..104032344hg38UCSC Ensembl
Innerchr12:104421941..104426122hg19UCSC Ensembl
Innerchr12:102946071..102950252hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg384182
hg194182
hg184182
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1942885, nssv1942889, nssv1942890, nssv1942891, nssv1942888, nssv1942893, nssv1942886, nssv1942887, nssv1942892, nssv1942894
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGLT8D2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973113
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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