A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996507



Internal ID19191852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:696626..696700hg38UCSC Ensembl
Outerchr16:746626..746700hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1147718
Supporting Variants
SamplesKWB1
Known GenesFBXL16
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996507
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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