A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17392861



Internal ID22450731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:120951884..120953511hg38UCSC Ensembl
chr2:121709460..121711087hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg381628
hg191628
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5893565
Supporting Variants
Samples
Known GenesGLI2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17392861
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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