A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201714



Internal ID20768755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179769936..180207393hg38UCSC Ensembl
chr1:179739071..180176528hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38437458
hg19437458
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6318860
Supporting Variants
Samples
Known GenesCEP350, FAM163A, FLJ23867, QSOX1, TOR1AIP1, TOR1AIP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201714
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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