A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974743



Internal ID50542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149528169..149528220hg38UCSC Ensembl
chr5:148907732..148907783hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5399416
Supporting Variants
Samples
Known GenesCSNK1A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974743
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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