A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2501347



Internal ID17842165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:46784311..46865851hg38UCSC Ensembl
Innerchr8:47695933..47777473hg19UCSC Ensembl
Innerchr8:47815098..47896638hg18UCSC Ensembl
Cytoband8q11.1
Allele length
AssemblyAllele length
hg3881541
hg1981541
hg1881541
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971304
Supporting Variants
SamplesHGDP00998
Known GenesLINC00293
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)nssv2501347
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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