A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16891739



Internal ID168684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165254342..165254432hg38UCSC Ensembl
chr1:165223579..165223669hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5415576
Supporting Variants
Samples
Known GenesLMX1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16891739
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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