A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5879295



Internal ID22654264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45548690..45566195hg38UCSC Ensembl
chr1:46014362..46031867hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3817506
hg1917506
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17376212
Samples
Known GenesAKR1A1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5879295
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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