A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2495742



Internal ID17740066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:21353750..21354706hg38UCSC Ensembl
Innerchr8:21211261..21212217hg19UCSC Ensembl
Innerchr8:21255541..21256497hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38957
hg19957
hg18957
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971629
Supporting Variants
SamplesHGDP00456
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)nssv2495742
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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