A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2507406



Internal ID17772935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:69320601..69328905hg38UCSC Ensembl
Innerchr8:70232836..70241140hg19UCSC Ensembl
Innerchr8:70395390..70403694hg18UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg388305
hg198305
hg188305
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981950
Supporting Variants
SamplesHGDP00542
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)nssv2507406
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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