A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16957616



Internal ID39051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:148337323..148337374hg38UCSC Ensembl
chr4:149258475..149258526hg19UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5407990
Supporting Variants
Samples
Known GenesNR3C2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16957616
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001251


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