A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16291173



Internal ID20500391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112913937..112914055hg38UCSC Ensembl
chr5:112249634..112249752hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4746966
Supporting Variants
Samples
Known GenesREEP5
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16291173
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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