A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946077



Internal ID18246241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:92834727..92836412hg38UCSC Ensembl
Innerchr1:93300284..93301969hg19UCSC Ensembl
Innerchr1:93072872..93074557hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381686
hg191686
hg181686
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1778464, nssv1778456, nssv1778462, nssv1778457, nssv1778461, nssv1778463, nssv1778465, nssv1778460, nssv1778459, nssv1778458
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesFAM69A, RPL5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946077
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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