A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5461772



Internal ID239718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:43229111..43229273hg38UCSC Ensembl
chr6:43196849..43197011hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38163
hg19163
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16981666
Samples
Known GenesDNPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5461772
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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