A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17616160



Internal ID21808207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128963610..128968364hg38UCSC Ensembl
chr12:129448155..129452909hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg384755
hg194755
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6038115
Supporting Variants
Samples
Known GenesGLT1D1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17616160
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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