A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6346281



Internal ID21003834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:203236301..203244800hg38UCSC Ensembl
chr2:204101024..204109523hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg388500
hg198500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18084370
Samples
Known GenesCYP20A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6346281
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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