A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200120



Internal ID20767160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1394057..1413806hg38UCSC Ensembl
chr1:1329437..1349186hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3819750
hg1919750
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6331379
Supporting Variants
Samples
Known GenesCCNL2, LOC148413, MRPL20
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200120
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