A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17609839



Internal ID21801886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128977458..128977458hg38UCSC Ensembl
chr12:129462003..129462003hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6091131
Supporting Variants
Samples
Known GenesGLT1D1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17609839
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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