A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14098047



Internal ID21290114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:29632470..29634280hg38UCSC Ensembl
Innerchr17:27959488..27961298hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381811
hg191811
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3118213
Supporting Variants
Samplessample55
Known GenesSSH2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14098047
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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