A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4747955



Internal ID20523978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229900714..229900855hg38UCSC Ensembl
chr1:230036461..230036602hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16276822
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4747955
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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