A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2514149



Internal ID17787099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:95586342..95587068hg38UCSC Ensembl
Innerchr8:96598570..96599296hg19UCSC Ensembl
Innerchr8:96667746..96668472hg18UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38727
hg19727
hg18727
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv981966
Supporting Variants
SamplesHGDP00665
Known GenesLOC100616530
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)nssv2514149
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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