A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17695823



Internal ID119489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:33222009..33222060hg38UCSC Ensembl
chr14:33691215..33691266hg19UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg38264
hg19264
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5425320
Supporting Variants
Samples
Known GenesNPAS3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17695823
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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