A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18179485



Internal ID20746525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:8802997..8961215hg38UCSC Ensembl
chr16:8896854..9055072hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38158219
hg19158219
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6504740
Supporting Variants
Samples
Known GenesCARHSP1, PMM2, USP7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18179485
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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