A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973070



Internal ID18261599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:53040063..53042664hg38UCSC Ensembl
Innerchr12:53433847..53436448hg19UCSC Ensembl
Innerchr12:51720114..51722715hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg382602
hg192602
hg182602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1930662, nssv1930660, nssv1930664, nssv1930667, nssv1930666, nssv1930659, nssv1930665, nssv1930668, nssv1930663, nssv1930661
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesEIF4B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973070
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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