A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5930050



Internal ID22705310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30733798..30733877hg38UCSC Ensembl
chr13:31307935..31308014hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17373944
Samples
Known GenesALOX5AP
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5930050
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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