A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18195759



Internal ID20762799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60570413..60659358hg38UCSC Ensembl
chr17:58647774..58736719hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3888946
hg1988946
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6522243
Supporting Variants
Samples
Known GenesPPM1D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18195759
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