A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202508



Internal ID20769548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23856957..23860680hg38UCSC Ensembl
chr1:24183447..24187170hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg383724
hg193724
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6334052
Supporting Variants
Samples
Known GenesFUCA1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202508
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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