A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468392



Internal ID246190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:151282387..151286057hg38UCSC Ensembl
chr6:151603522..151607192hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg383671
hg193671
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16989334
Samples
Known GenesAKAP12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468392
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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