A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201503



Internal ID20768544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149669401..149677500hg38UCSC Ensembl
chr1:149641002..149649086hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg388100
hg198085
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6335272
Supporting Variants
Samples
Known GenesLINC00869
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201503
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00034


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