A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574705



Internal ID16015428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:32486261..32487561hg38UCSC Ensembl
Innerchr17:30813279..30814579hg19UCSC Ensembl
Innerchr17:27837392..27838692hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381301
hg191301
hg181301
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5526n54
Supporting Variantsnssv869626
Samples
Known GenesCDK5R1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574705
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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