A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4748934



Internal ID20524962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220112119..220112440hg38UCSC Ensembl
chr1:220285461..220285782hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16268756
Samples
Known GenesIARS2, RNU5F-1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4748934
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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