A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4747613



Internal ID20523632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:67358585..67366463hg38UCSC Ensembl
chr1:67824268..67832146hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg387879
hg197879
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16286536
Samples
Known GenesIL12RB2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4747613
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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