A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574216



Internal ID16014939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:2036249..2161537hg38UCSC Ensembl
Innerchr17:1939543..2064831hg19UCSC Ensembl
Innerchr17:1886293..2011581hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38125289
hg19125289
hg18125289
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv866417
Samples
Known GenesDPH1, HIC1, MIR132, MIR212, OVCA2, SMG6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574216
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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