A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2073592



Internal ID17786408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4636026..4638441hg38UCSC Ensembl
Innerchr17:4539321..4541736hg19UCSC Ensembl
Innerchr17:4486070..4488485hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg382416
hg192416
hg182416
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962250
Supporting Variants
SamplesHGDP00665
Known GenesALOX15
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)nssv2073592
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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