A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18188036



Internal ID20755076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:62830308..62832042hg38UCSC Ensembl
chr17:60907669..60909403hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg381735
hg191735
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6525100
Supporting Variants
Samples
Known GenesMIR548W
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18188036
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