A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5432029



Internal ID210786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48459916..48603419hg38UCSC Ensembl
chr1:48925588..49069091hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38143504
hg19143504
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902219
Samples
Known GenesAGBL4, SPATA6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5432029
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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