A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4742207



Internal ID20518187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111651270..111651344hg38UCSC Ensembl
chr12:112089074..112089148hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16271300
Samples
Known GenesBRAP
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4742207
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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