A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17523982



Internal ID21848341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12230695..12230780hg38UCSC Ensembl
chr1:12290752..12290837hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5980970
Supporting Variants
Samples
Known GenesVPS13D
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17523982
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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