A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4747992



Internal ID20524015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:50563875..50563933hg38UCSC Ensembl
chr16:50597786..50597844hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16263916
Samples
Known GenesNKD1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4747992
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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