A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945355



Internal ID18592206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:228528910..228648269hg38UCSC Ensembl
Innerchr1:228716611..228784016hg19UCSC Ensembl
Innerchr1:226783234..226850639hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38119360
hg1967406
hg1867406
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1822665, nssv1822657, nssv1822658, nssv1822659, nssv1822661, nssv1822656, nssv1822660, nssv1822663, nssv1822662, nssv1822664
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDUSP5P1, RHOU
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945355
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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