A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2471937



Internal ID17538723
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 Flag1
Merged StatusS
Merged Variantsnsv981563
Supporting Variants
SamplesHGDP01307
Known GenesPOLR2J2, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B, UPK3BL
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2471937
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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