A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201342



Internal ID20768382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44723036..44737580hg38UCSC Ensembl
chr1:45188708..45203252hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3814545
hg1914545
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6316806
Supporting Variants
Samples
Known GenesC1orf228
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201342
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