A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970563



Internal ID18259099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102651678..102668218hg38UCSC Ensembl
Innerchr7:102292125..102308665hg19UCSC Ensembl
Innerchr7:102079361..102095901hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3816541
hg1916541
hg1816541
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2472818, nssv2472812, nssv2472817, nssv2721297, nssv2721298, nssv2472810, nssv2472811, nssv2721295, nssv2721291, nssv2472816, nssv2472809, nssv2721300, nssv2472815, nssv2721296, nssv2472814, nssv2721294, nssv2472813, nssv2721299, nssv2721293, nssv2721292
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPOLR2J2, POLR2J3, SPDYE2, SPDYE2B
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970563
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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