A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690536



Internal ID114202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104544166..104544171hg38UCSC Ensembl
chr12:104937944..104937949hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5535154
Supporting Variants
Samples
Known GenesCHST11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690536
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.023884


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