A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4010121



Internal ID22071752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:17696369..17846424hg38UCSC Ensembl
Outerchr17:17691396..17849495hg38UCSC Ensembl
Innerchr17:17599683..17749738hg19UCSC Ensembl
Outerchr17:17594710..17752809hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38158100
hg19158100
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155387
Supporting Variants
Samples
Known GenesMIR33B, MIR6777, RAI1, SMCR5, SREBF1, TOM1L2
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4010121
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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