A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2467640



Internal ID17851989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:87341071..87341968hg38UCSC Ensembl
Innerchr7:86970387..86971284hg19UCSC Ensembl
Innerchr7:86808323..86809220hg18UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg38898
hg19898
hg18898
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970548
Supporting Variants
SamplesHGDP01029
Known GenesTP53TG1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2467640
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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