A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17711993



Internal ID135659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:19149555..19237111hg38UCSC Ensembl
chr17:19052868..19140424hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3887557
hg1987557
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145696
Supporting Variants
Samples
Known GenesGRAPL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17711993
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.17003


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