A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18185784



Internal ID20752824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75673498..75689697hg38UCSC Ensembl
chr17:73669578..73685777hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3816200
hg1916200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6518348
Supporting Variants
Samples
Known GenesSAP30BP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18185784
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00109


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