A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17366042



Internal ID22591711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122274166..122278786hg38UCSC Ensembl
chr12:122758713..122763333hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384621
hg194621
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5940481
Supporting Variants
Samples
Known GenesCLIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17366042
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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