A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4742454



Internal ID20518437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10190064..10190167hg38UCSC Ensembl
chr2:10330190..10330293hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16265793
Samples
Known GenesC2orf48
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4742454
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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