A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2488601



Internal ID17808853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152761518..152769987hg38UCSC Ensembl
Innerchr7:152458603..152467072hg19UCSC Ensembl
Innerchr7:152089536..152098005hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg388470
hg198470
hg188470
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966912
Supporting Variants
SamplesHGDP00778
Known GenesACTR3B
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)nssv2488601
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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