A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2087779



Internal ID17821806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:27008383..27020967hg38UCSC Ensembl
Innerchr17:25335409..25347993hg19UCSC Ensembl
Innerchr17:22359536..22372120hg18UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg3812585
hg1912585
hg1812585
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv960451
Supporting Variants
SamplesHGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2087779
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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