A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4750243



Internal ID20526279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169761289..169761599hg38UCSC Ensembl
chr1:169730430..169730740hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16264658
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4750243
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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