A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5882448



Internal ID22657425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53296764..53296816hg38UCSC Ensembl
chr1:53762436..53762488hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17370972
Samples
Known GenesLRP8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5882448
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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