A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978700



Internal ID53176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:175553618..175560619hg38UCSC Ensembl
chr5:174980621..174987622hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg387002
hg197002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5463033
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16978700
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000625


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