A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17420551



Internal ID22478421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:167651749..167657093hg38UCSC Ensembl
chr5:167078754..167084098hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg385345
hg195345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5892530
Supporting Variants
Samples
Known GenesTENM2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17420551
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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