A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684558



Internal ID108224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112467183..112467242hg38UCSC Ensembl
chr12:112904987..112905046hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510618
Supporting Variants
Samples
Known GenesPTPN11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684558
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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