A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975469



Internal ID18263991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31073093..31074288hg38UCSC Ensembl
Innerchr12:31226027..31227222hg19UCSC Ensembl
Innerchr12:31117294..31118489hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg381196
hg191196
hg181196
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1921626, nssv1921632, nssv1921630, nssv1921634, nssv1921631, nssv1921633, nssv1921629, nssv1921627, nssv1921625, nssv1921628
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesDDX11, DDX11-AS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975469
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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