A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18188957



Internal ID20755997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129003347..129030448hg38UCSC Ensembl
chr12:129487892..129514993hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3827102
hg1927102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6477973
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18188957
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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