A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452499



Internal ID230651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129324148..129330051hg38UCSC Ensembl
chr3:129042991..129048894hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg385904
hg195904
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16939144
Samples
Known GenesH1FX-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452499
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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