A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4742291



Internal ID20518273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183389733..183389794hg38UCSC Ensembl
chr1:183358868..183358929hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16262855
Samples
Known GenesNMNAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4742291
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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