A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18178046



Internal ID20745086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:123589402..123641476hg38UCSC Ensembl
chr11:123460110..123512184hg19UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg3852075
hg1952075
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6456585
Supporting Variants
Samples
Known GenesGRAMD1B, SCN3B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18178046
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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