A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983331



Internal ID18618525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:54800911..54803851hg38UCSC Ensembl
Innerchr12:55194695..55197635hg19UCSC Ensembl
Innerchr12:53480962..53483902hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg382941
hg192941
hg182941
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1932180, nssv1932177, nssv1932176, nssv1932182, nssv1932175, nssv1932181, nssv1932178, nssv1932179, nssv1932183, nssv1932174
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)nsv983331
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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