A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200638



Internal ID20767678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:242817635..242870650hg38UCSC Ensembl
chr1:242980937..243033952hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3853016
hg1953016
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6318243
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200638
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