A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428221



Internal ID207099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48416034..48432887hg38UCSC Ensembl
chr1:48881706..48898559hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3816854
hg1916854
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902215
Samples
Known GenesSPATA6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428221
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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