A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2094950



Internal ID17472232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:38263330..38317291hg38UCSC Ensembl
Innerchr17:36419333..36473191hg19UCSC Ensembl
Innerchr17:33673150..33726714hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3853962
hg1953859
hg1853565
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv960482
Supporting Variants
SamplesHGDP00927
Known GenesMRPL45
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)nssv2094950
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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