A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6522212



Internal ID20895573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:21620028..21621651hg38UCSC Ensembl
chr18:19199989..19201612hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg381624
hg191624
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18183901
Samples
Known GenesSNRPD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6522212
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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