A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6321418



Internal ID20854523
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 StatusM
Merged Variants
Supporting Variantsnssv18200650
Samples
Known GenesAKT3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6321418
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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