A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4730521



Internal ID20506433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:213601994..213602051hg38UCSC Ensembl
chr1:213775337..213775394hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16284799
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4730521
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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