A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17597984



Internal ID21790028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:8758359..8812839hg38UCSC Ensembl
chr16:8852216..8906696hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3854481
hg1954481
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6032734
Supporting Variants
Samples
Known GenesABAT, PMM2, TMEM186
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17597984
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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