A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5981597



Internal ID21890940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149501555..149501610hg38UCSC Ensembl
chr1:146433591..146433646hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17536610
Samples
Known GenesLOC100288142, LOC101929780, NBPF10, NBPF12
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5981597
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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