A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2504688



Internal ID17437823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:51818471..51822585hg38UCSC Ensembl
Innerchr8:52731031..52735145hg19UCSC Ensembl
Innerchr8:52893584..52897698hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg384115
hg194115
hg184115
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967589
Supporting Variants
SamplesHGDP00665
Known GenesPCMTD1
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)nssv2504688
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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