A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16892402



Internal ID169128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161445700..161670587hg38UCSC Ensembl
chr1:161415490..161640377hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38224888
hg19224888
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138675
Supporting Variants
Samples
Known GenesFCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, HSPA6, HSPA7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16892402
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.005019


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