A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5876612



Internal ID22651573
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 StatusM
Merged Variants
Supporting Variantsnssv17400477
Samples
Known GenesCLHC1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5876612
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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