A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201358



Internal ID20768398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45472188..45482916hg38UCSC Ensembl
chr1:45937860..45948588hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3810729
hg1910729
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6321390
Supporting Variants
Samples
Known GenesTESK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201358
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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