A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999456



Internal ID19190498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:40087017..40087111hg38UCSC Ensembl
Outerchr17:38243270..38243364hg19UCSC Ensembl
Cytoband17q21.1
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1146249
Supporting Variants
SamplesKWB1
Known GenesTHRA
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999456
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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