A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427065



Internal ID205979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145938709..145946302hg38UCSC Ensembl
chr1:145488784..145496383hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg387594
hg197600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16889064
Samples
Known GenesLIX1L, LOC100288142, NBPF10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427065
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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