A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5933379



Internal ID22708691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:50725552..50928408hg38UCSC Ensembl
chr15:51017749..51220605hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38202857
hg19202857
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17384132
Samples
Known GenesAP4E1, SPPL2A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5933379
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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