A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6056667



Internal ID21965900
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 StatusM
Merged Variants
Supporting Variantsnssv17523845
Samples
Known GenesGLIS1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6056667
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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