A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17523845



Internal ID21848204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53556138..53556138hg38UCSC Ensembl
chr1:54021811..54021811hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6056667
Supporting Variants
Samples
Known GenesGLIS1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17523845
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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