A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18036059



Internal ID20603099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48335070..48338289hg38UCSC Ensembl
chr17:46412432..46415651hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg383220
hg193220
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6524750
Supporting Variants
Samples
Known GenesSKAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18036059
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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