A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18231125



Internal ID20798165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48643101..48760100hg38UCSC Ensembl
chr8:49555661..49672659hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38117000
hg19116999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6425090
Supporting Variants
Samples
Known GenesEFCAB1, LOC101929268
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18231125
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00076


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