A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723060



Internal ID146726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:36044426..36044426hg38UCSC Ensembl
chr19:36535328..36535328hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5424881
Supporting Variants
Samples
Known GenesTHAP8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723060
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.048927


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