A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16970438



Internal ID47619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:94179863..94180168hg38UCSC Ensembl
chr5:93515568..93515873hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5464106
Supporting Variants
Samples
Known GenesKIAA0825
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16970438
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001249


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