A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973086



Internal ID18608301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:65416975..65419897hg38UCSC Ensembl
Innerchr12:65810755..65813677hg19UCSC Ensembl
Innerchr12:64097022..64099944hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg382923
hg192923
hg182923
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1936299, nssv1936295, nssv1936298, nssv1936296, nssv1936301, nssv1936294, nssv1936297, nssv1936300, nssv1936302, nssv1936303
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMSRB3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973086
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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