A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16950118



Internal ID34097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:55971638..55971689hg38UCSC Ensembl
chr4:56837804..56837855hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5399531
Supporting Variants
Samples
Known GenesCEP135
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16950118
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001405


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