A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17721768



Internal ID145434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:15472027..15472078hg38UCSC Ensembl
chr19:15582838..15582889hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5559999
Supporting Variants
Samples
Known GenesPGLYRP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17721768
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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