A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17058628



Internal ID106948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53101167..53102226hg38UCSC Ensembl
chr12:53494951..53496010hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381060
hg191060
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511906
Supporting Variants
Samples
Known GenesIGFBP6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17058628
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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