A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2086219



Internal ID17864090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:22443407..22530005hg38UCSC Ensembl
Innerchr17:21942736..22029331hg19UCSC Ensembl
Innerchr17:21866863..21953458hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3886599
hg1986596
hg1886596
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960079
Supporting Variants
SamplesHGDP01284
Known GenesMTRNR2L1
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)nssv2086219
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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