A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17416166



Internal ID22474036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69204340..69204664hg38UCSC Ensembl
chr5:68500167..68500491hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5901482
Supporting Variants
Samples
Known GenesCENPH
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17416166
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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