A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6554884



Internal ID20927974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44442430..44461795hg38UCSC Ensembl
chr21:45862313..45881678hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3819366
hg1919366
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204137
Samples
Known GenesLRRC3, LRRC3-AS1, TRPM2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6554884
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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