A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17463425



Internal ID22521311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128974689..128976688hg38UCSC Ensembl
chr12:129459234..129461233hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg382000
hg192000
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5862106
Supporting Variants
Samples
Known GenesGLT1D1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17463425
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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