A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18188310



Internal ID20755350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40040178..40040793hg38UCSC Ensembl
chr17:38196431..38197046hg19UCSC Ensembl
Cytoband17q21.1
Allele length
AssemblyAllele length
hg38616
hg19616
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6496579
Supporting Variants
Samples
Known GenesMED24
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18188310
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