A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054159



Internal ID103935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27611682..27611820hg38UCSC Ensembl
chr12:27764615..27764753hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498870
Supporting Variants
Samples
Known GenesPPFIBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054159
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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