A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16918367



Internal ID13012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:120854067..120881201hg38UCSC Ensembl
chr2:121611642..121638776hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3827135
hg1927135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5453554
Supporting Variants
Samples
Known GenesGLI2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16918367
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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