A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18165672



Internal ID20732712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:131988947..131989338hg38UCSC Ensembl
chr8:133001194..133001585hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38392
hg19392
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6418297
Supporting Variants
Samples
Known GenesEFR3A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18165672
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0006


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