A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201937



Internal ID20768978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1655801..1663700hg38UCSC Ensembl
chr1:1587255..1595139hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg387900
hg197885
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6318983
Supporting Variants
Samples
Known GenesCDK11B, SLC35E2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201937
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00482


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