A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2517436



Internal ID17841628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:123397543..123404215hg38UCSC Ensembl
Innerchr8:124409783..124416455hg19UCSC Ensembl
Innerchr8:124478964..124485636hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg386673
hg196673
hg186673
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971698
Supporting Variants
SamplesHGDP00998
Known Genes
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)nssv2517436
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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