A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5899106



Internal ID22674232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238098563..238098618hg38UCSC Ensembl
chr2:239007204..239007259hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401555
Samples
Known GenesSCLY, UBE2F-SCLY
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5899106
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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