A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2112849



Internal ID17785262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80541525..80543233hg38UCSC Ensembl
Innerchr17:78515325..78517033hg19UCSC Ensembl
Innerchr17:76129920..76131628hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381709
hg191709
hg181709
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960150
Supporting Variants
SamplesHGDP00665
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)nssv2112849
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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