A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5882388



Internal ID22657365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:30461949..30467380hg38UCSC Ensembl
chr2:30684815..30690246hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg385432
hg195432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17394302
Samples
Known GenesLCLAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5882388
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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