A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4749213



Internal ID20525243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54876660..54877686hg38UCSC Ensembl
chr1:55342333..55343359hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381027
hg191027
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16266329
Samples
Known GenesDHCR24
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4749213
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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