A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981563



Internal ID18270074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102569085..102651678hg38UCSC Ensembl
Innerchr7:102209532..102292125hg19UCSC Ensembl
Innerchr7:101996638..102079361hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3882594
hg1982594
hg1882724
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2471942, nssv2471940, nssv2471944, nssv2471943, nssv2471937, nssv2471945, nssv2471946, nssv2471938, nssv2471939, nssv2471941
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesPOLR2J2, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B, UPK3BL
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981563
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer