A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204430



Internal ID20771470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:75743266..75749322hg38UCSC Ensembl
chr1:76208951..76215007hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg386057
hg196057
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6327770
Supporting Variants
Samples
Known GenesACADM
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204430
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer