A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2087947



Internal ID17888552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:27038126..27048149hg38UCSC Ensembl
Innerchr17:25365152..25375175hg19UCSC Ensembl
Innerchr17:22389279..22399302hg18UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg3810024
hg1910024
hg1810024
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv962296
Supporting Variants
SamplesHGDP01307
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)nssv2087947
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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