A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6323249



Internal ID20856366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:184048601..184053800hg38UCSC Ensembl
chr1:184017735..184022934hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg385200
hg195200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201762
Samples
Known GenesTSEN15
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6323249
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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