A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453801



Internal ID231913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:226903574..226990920hg38UCSC Ensembl
chr2:227768290..227855636hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3887347
hg1987347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924027
Samples
Known GenesRHBDD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453801
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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