A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530544



Internal ID306523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38075652..38078186hg38UCSC Ensembl
chr19:38566292..38568826hg19UCSC Ensembl
Cytoband19q13.13
Allele length
AssemblyAllele length
hg382535
hg192535
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723235
Samples
Known GenesSIPA1L3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530544
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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