A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5887295



Internal ID22662287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12299539..12299626hg38UCSC Ensembl
chr1:12359596..12359683hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17365863
Samples
Known GenesVPS13D
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5887295
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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