A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946604



Internal ID18246768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:204345880..204348034hg38UCSC Ensembl
Innerchr1:204315008..204317162hg19UCSC Ensembl
Innerchr1:202581631..202583785hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg382155
hg192155
hg182155
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1813847, nssv1813851, nssv1813852, nssv1813849, nssv1813854, nssv1813853, nssv1813848, nssv1813856, nssv1813855, nssv1813850
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesPLEKHA6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946604
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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