A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2495641



Internal ID17401583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18849206..18849706hg38UCSC Ensembl
Innerchr8:18706716..18707216hg19UCSC Ensembl
Innerchr8:18750996..18751496hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981918
Supporting Variants
SamplesHGDP00521
Known GenesPSD3
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)nssv2495641
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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