A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2101208



Internal ID17541730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:49408932..49410401hg38UCSC Ensembl
Innerchr17:47486294..47487763hg19UCSC Ensembl
Innerchr17:44841293..44842762hg18UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg381470
hg191470
hg181470
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960500
Supporting Variants
SamplesHGDP01307
Known GenesPHB
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)nssv2101208
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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