A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16977335



Internal ID52291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:157653448..157692688hg38UCSC Ensembl
chr5:157080456..157119696hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3839241
hg1939241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5473120
Supporting Variants
Samples
Known GenesC5orf52
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16977335
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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