A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2512523



Internal ID17748751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:94553843..94565599hg38UCSC Ensembl
Innerchr8:95566071..95577827hg19UCSC Ensembl
Innerchr8:95635247..95647003hg18UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3811757
hg1911757
hg1811757
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971684
Supporting Variants
SamplesHGDP00521
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)nssv2512523
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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