A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976625



Internal ID18611831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:53018641..53020390hg38UCSC Ensembl
Innerchr12:53412425..53414174hg19UCSC Ensembl
Innerchr12:51698692..51700441hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381750
hg191750
hg181750
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1932306, nssv1932313, nssv1932308, nssv1932307, nssv1932309, nssv1932311, nssv1932305, nssv1932310, nssv1932312, nssv1932304
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)nsv976625
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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