A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421280



Internal ID200363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:178690494..178707105hg38UCSC Ensembl
chr1:178659629..178676240hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3816612
hg1916612
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892998
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421280
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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