A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427409



Internal ID206313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:64751345..64752342hg38UCSC Ensembl
chr1:65217028..65218025hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38998
hg19998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904524
Samples
Known GenesRAVER2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427409
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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