A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511649



Internal ID288222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:40260201..40260599hg38UCSC Ensembl
chr15:40552402..40552800hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg38399
hg19399
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17700109
Samples
Known GenesPAK6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511649
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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