A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2503799



Internal ID17781055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:50754010..50766100hg38UCSC Ensembl
Innerchr8:51666570..51678660hg19UCSC Ensembl
Innerchr8:51829123..51841213hg18UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3812091
hg1912091
hg1812091
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981937
Supporting Variants
SamplesHGDP00665
Known GenesSNTG1
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)nssv2503799
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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