A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13701402



Internal ID21223231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80025067..80025067hg38UCSC Ensembl
chr17:77998866..77998866hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2797222
Supporting Variants
Samples
Known GenesTBC1D16
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13701402
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.967742


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