A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5581951



Internal ID21530457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183389736..183389787hg38UCSC Ensembl
chr1:183358871..183358922hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17061975
SamplesHG02818
Known GenesNMNAT2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5581951
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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