A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5487254



Internal ID264596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:113156532..113160739hg38UCSC Ensembl
chr9:115918812..115923019hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg384208
hg194208
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17026364
Samples
Known GenesSLC31A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5487254
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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