A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6326236



Internal ID20859370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48219215..48228927hg38UCSC Ensembl
chr1:48684887..48694599hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg389713
hg199713
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201409
Samples
Known GenesSLC5A9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6326236
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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