A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17053899



Internal ID103774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:17863306..17865540hg38UCSC Ensembl
chr12:18016240..18018474hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg382235
hg192235
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5496799
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17053899
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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