A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18188861



Internal ID20755901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5140301..5145400hg38UCSC Ensembl
chr17:5043596..5048695hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg385100
hg195100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6499305
Supporting Variants
Samples
Known GenesUSP6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18188861
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00084


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