A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199214



Internal ID20766254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108181501..108234400hg38UCSC Ensembl
chr1:108724123..108777022hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3852900
hg1952900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6324086
Supporting Variants
Samples
Known GenesNBPF4, SLC25A24
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199214
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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