A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4744603



Internal ID20520604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:115686863..115690220hg38UCSC Ensembl
chr1:116229484..116232841hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg383358
hg193358
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16269833
Samples
Known GenesVANGL1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4744603
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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