A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4742614



Internal ID20518598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:13002471..13002527hg38UCSC Ensembl
chr2:13142596..13142652hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16289361
Samples
Known GenesLOC100506474
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4742614
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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