A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17356167



Internal ID22581836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49003004..49003140hg38UCSC Ensembl
chr12:49396787..49396923hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5947471
Supporting Variants
Samples
Known GenesPRKAG1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17356167
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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