A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16970427



Internal ID47611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:94042668..94043171hg38UCSC Ensembl
chr5:93378373..93378876hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38504
hg19504
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5454199
Supporting Variants
Samples
Known GenesFAM172A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16970427
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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