A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16925084



Internal ID17477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232705094..232710194hg38UCSC Ensembl
chr2:233569804..233574904hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg385101
hg195101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5451839
Supporting Variants
Samples
Known GenesGIGYF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16925084
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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