A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2506982



Internal ID17845063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:66759006..66767829hg38UCSC Ensembl
Innerchr8:67671241..67680064hg19UCSC Ensembl
Innerchr8:67833795..67842618hg18UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg388824
hg198824
hg188824
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971317
Supporting Variants
SamplesHGDP01029
Known GenesC8orf44-SGK3, PTTG3P, SGK3
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)nssv2506982
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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