A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944339



Internal ID22719802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:37937479..37937786hg38UCSC Ensembl
chr19:38428119..38428426hg19UCSC Ensembl
Cytoband19q13.13
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17406798
Samples
Known GenesSIPA1L3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944339
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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