A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5888247



Internal ID22663250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:148785241..148785317hg38UCSC Ensembl
chr4:149706393..149706469hg19UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17410881
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5888247
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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