A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5597999



Internal ID21546620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28698452..28709337hg38UCSC Ensembl
chr16:28709773..28720658hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3810886
hg1910886
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17095655
SamplesNA24385
Known GenesEIF3C
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5597999
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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