A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433478



Internal ID212191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:32825429..32826097hg38UCSC Ensembl
chr1:33291030..33291698hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg38669
hg19669
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16903662
Samples
Known GenesS100PBP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433478
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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