A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5867749



Internal ID22642685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:106827313..106827387hg38UCSC Ensembl
chr2:107443769..107443843hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17394726
Samples
Known GenesST6GAL2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5867749
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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