A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16972351



Internal ID48926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:94826699..94829337hg38UCSC Ensembl
chr5:94162404..94165042hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg382639
hg192639
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5455416
Supporting Variants
Samples
Known GenesMCTP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16972351
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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