A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18190587



Internal ID20757627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105072501..105124800hg38UCSC Ensembl
chr12:105466279..105518578hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3852300
hg1952300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6466751
Supporting Variants
Samples
Known GenesALDH1L2, KIAA1033
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18190587
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00061


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