A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17400921



Internal ID22458791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:223940788..223940967hg38UCSC Ensembl
chr2:224805505..224805684hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5900762
Supporting Variants
Samples
Known GenesWDFY1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17400921
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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