A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470430



Internal ID248190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:165543983..165545364hg38UCSC Ensembl
chr6:165957471..165958852hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381382
hg191382
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16990321
Samples
Known GenesPDE10A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470430
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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