A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5591831



Internal ID21540409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:50579427..50579540hg38UCSC Ensembl
chr16:50613338..50613451hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17091922
SamplesNA19239
Known GenesNKD1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5591831
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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