A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423654



Internal ID202669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109008518..109008863hg38UCSC Ensembl
chr1:109551140..109551485hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38346
hg19346
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16908821
Samples
Known GenesWDR47
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423654
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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