A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5877042



Internal ID22652005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53435817..53439483hg38UCSC Ensembl
chr1:53901490..53905156hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg383667
hg193667
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17386878
Samples
Known GenesSLC25A3P1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5877042
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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