A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978594



Internal ID53101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:169892873..169893590hg38UCSC Ensembl
chr5:169319877..169320594hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38718
hg19718
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5461651
Supporting Variants
Samples
Known GenesDOCK2, FAM196B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16978594
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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