A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417266



Internal ID196467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:177252014..177252072hg38UCSC Ensembl
chr1:177221150..177221208hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892298
Samples
Known GenesBRINP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417266
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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