A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200650



Internal ID20767690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243793579..243837356hg38UCSC Ensembl
chr1:243956881..244000658hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3843778
hg1943778
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6321418
Supporting Variants
Samples
Known GenesAKT3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200650
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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