A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17506665



Internal ID22564613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42947512..42956441hg38UCSC Ensembl
chr8:42802655..42811584hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg388930
hg198930
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5854544
Supporting Variants
Samples
Known GenesHOOK3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17506665
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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