A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973030



Internal ID18608245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:12875122..12877192hg38UCSC Ensembl
Innerchr12:13028056..13030126hg19UCSC Ensembl
Innerchr12:12919323..12921393hg18UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg382071
hg192071
hg182071
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1918472, nssv1918470, nssv1918467, nssv1918468, nssv1918473, nssv1918475, nssv1918469, nssv1918476, nssv1918474, nssv1918471
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPL13AP20
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973030
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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