A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17432081



Internal ID22489951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94689690..94689854hg38UCSC Ensembl
chr8:95701918..95702082hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5927001
Supporting Variants
Samples
Known GenesESRP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17432081
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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