A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2110765



Internal ID17402014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:68187319..68207176hg38UCSC Ensembl
Innerchr17:66183460..66203317hg19UCSC Ensembl
Innerchr17:63695055..63714912hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3819858
hg1919858
hg1819858
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960146
Supporting Variants
SamplesHGDP00521
Known GenesLOC440461
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)nssv2110765
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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