A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204133



Internal ID20771173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44408128..44458436hg38UCSC Ensembl
chr21:45828011..45878319hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3850309
hg1950309
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6551108
Supporting Variants
Samples
Known GenesLRRC3, LRRC3-AS1, TRPM2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204133
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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