A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17523847



Internal ID21848206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:155237610..155237930hg38UCSC Ensembl
chr1:155207401..155207721hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5981394
Supporting Variants
Samples
Known GenesGBA
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17523847
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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