A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973059



Internal ID18608274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:42677725..42679214hg38UCSC Ensembl
Innerchr12:43071527..43073016hg19UCSC Ensembl
Innerchr12:41357794..41359283hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg381490
hg191490
hg181490
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1925215, nssv1925210, nssv1925212, nssv1925211, nssv1925214, nssv1925217, nssv1925208, nssv1925216, nssv1925213, nssv1925209
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973059
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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