A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204394



Internal ID20771434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7360875..7384756hg38UCSC Ensembl
chr1:7420935..7444816hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3823882
hg1923882
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6316534
Supporting Variants
Samples
Known GenesCAMTA1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204394
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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