A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17400477



Internal ID22458347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55224879..55224940hg38UCSC Ensembl
chr2:55452015..55452076hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5876612
Supporting Variants
Samples
Known GenesCLHC1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17400477
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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