A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4742514



Internal ID20518498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139139747..139139888hg38UCSC Ensembl
chr5:138475436..138475577hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16288543
Samples
Known GenesSIL1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4742514
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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