A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6352171



Internal ID21009724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197394142..197394732hg38UCSC Ensembl
chr2:198258866..198259456hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38591
hg19591
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18084220
Samples
Known GenesSF3B1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6352171
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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