A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17685630



Internal ID109296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132219691..132219938hg38UCSC Ensembl
chr12:132704236..132704483hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143947
Supporting Variants
Samples
Known GenesGALNT9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17685630
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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