A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2081777



Internal ID17835565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:16890178..16897949hg38UCSC Ensembl
Innerchr17:16793492..16801263hg19UCSC Ensembl
Innerchr17:16734217..16741988hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg387772
hg197772
hg187772
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978375
Supporting Variants
SamplesHGDP00998
Known Genes
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)nssv2081777
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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