A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6543570



Internal ID20916816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45145659..45425181hg38UCSC Ensembl
chr21:46565574..46845096hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38279523
hg19279523
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204160
Samples
Known GenesADARB1, COL18A1, COL18A1-AS1, COL18A1-AS2, LINC00316, LOC642852, POFUT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6543570
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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