A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4735738



Internal ID20511681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:146182211..146182444hg38UCSC Ensembl
chr1:145255749..145255982hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16261936
Samples
Known GenesLOC100288142, NBPF9, NOTCH2NL
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4735738
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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