A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5897544



Internal ID22672648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:223944584..223944647hg38UCSC Ensembl
chr2:224809301..224809364hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17394160
Samples
Known GenesWDFY1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5897544
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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