A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17725513



Internal ID149179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54280539..54594201hg38UCSC Ensembl
chr19:54784394..55105666hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38313663
hg19321273
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5562753
Supporting Variants
Samples
Known GenesCDC42EP5, KIR3DX1, LAIR1, LAIR2, LENG8, LENG9, LILRA1, LILRA2, LILRA3, LILRA4, LILRA5, LILRB2, MIR4752, TTYH1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17725513
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.017796


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