A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2476374



Internal ID17743251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:123550515..123557311hg38UCSC Ensembl
Innerchr7:123190569..123197365hg19UCSC Ensembl
Innerchr7:122977805..122984601hg18UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg386797
hg196797
hg186797
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970575
Supporting Variants
SamplesHGDP00456
Known GenesNDUFA5
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)nssv2476374
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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