A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16950496



Internal ID34349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68329660..68329711hg38UCSC Ensembl
chr4:69195378..69195429hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5401556
Supporting Variants
Samples
Known GenesYTHDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16950496
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002185


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