A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712467



Internal ID136133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30187074..30193054hg38UCSC Ensembl
chr17:28514092..28520072hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg385981
hg195981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5521229
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712467
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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