A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428571



Internal ID207438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:115071008..115071073hg38UCSC Ensembl
chr1:115613629..115613694hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16889268
Samples
Known GenesTSPAN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428571
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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