A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5904472



Internal ID22679649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:226935214..226939576hg38UCSC Ensembl
chr2:227799930..227804292hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg384363
hg194363
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17390636
Samples
Known GenesRHBDD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5904472
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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