A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17402908



Internal ID22460778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:30605951..30609325hg38UCSC Ensembl
chr2:30828817..30832191hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg383375
hg193375
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5881760
Supporting Variants
Samples
Known GenesLCLAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17402908
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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