A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17412057



Internal ID22469927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69125832..69125832hg38UCSC Ensembl
chr5:68421659..68421659hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5950743
Supporting Variants
Samples
Known GenesSLC30A5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17412057
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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