A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17529897



Internal ID21854254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40277373..40285273hg38UCSC Ensembl
chr1:40743045..40750945hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg387901
hg197901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5984094
Supporting Variants
Samples
Known GenesZMPSTE24
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17529897
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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