A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473249



Internal ID250935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:43226844..43227154hg38UCSC Ensembl
chr6:43194582..43194892hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16981665
Samples
Known GenesDNPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473249
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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