A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5891881



Internal ID22666924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238077431..238077814hg38UCSC Ensembl
chr2:238986072..238986455hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38384
hg19384
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17392893
Samples
Known GenesSCLY, UBE2F-SCLY
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5891881
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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