A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13707171



Internal ID21228967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137686875..137688198hg38UCSC Ensembl
chr5:137022564..137023887hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg381324
hg191324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2811123
Supporting Variants
Samples
Known GenesKLHL3
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13707171
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.859375


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