A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5874832



Internal ID22649786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9980183..9980906hg38UCSC Ensembl
chr1:10040241..10040964hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38724
hg19724
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17408246
Samples
Known GenesNMNAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5874832
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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