A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16972400



Internal ID48958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:95637232..95650813hg38UCSC Ensembl
chr5:94972936..94986517hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3813582
hg1913582
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5471249
Supporting Variants
Samples
Known GenesRFESD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16972400
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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