A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17853081



Internal ID22036724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:135819321..135819321hg38UCSC Ensembl
chr2:136576891..136576891hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6253018
Supporting Variants
Samples
Known GenesLCT
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17853081
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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