A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202102



Internal ID20769143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:95105613..95107141hg38UCSC Ensembl
chr1:95571169..95572697hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg381529
hg191529
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6329403
Supporting Variants
Samples
Known GenesTMEM56
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202102
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