A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18180936



Internal ID20747976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132591008..132612210hg38UCSC Ensembl
chr12:133167594..133188796hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3821203
hg1921203
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6480724
Supporting Variants
Samples
Known GenesLRCOL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18180936
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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