A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054425



Internal ID104119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:17015200..17019327hg38UCSC Ensembl
chr12:17168134..17172261hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg384128
hg194128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5512811
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054425
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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