A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5886678



Internal ID22661667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53129453..53129930hg38UCSC Ensembl
chr1:53595125..53595602hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38478
hg19478
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17370663
Samples
Known GenesSLC1A7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5886678
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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