A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17089628



Internal ID21501988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30979149..30979276hg38UCSC Ensembl
chr17:29306167..29306294hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5592666
Supporting Variants
SamplesNA19239
Known GenesRNF135
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17089628
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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