A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574060



Internal ID16014783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:494867..816212hg38UCSC Ensembl
Innerchr17:398107..719452hg19UCSC Ensembl
Innerchr17:344857..666202hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38321346
hg19321346
hg18321346
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5386n54
Supporting Variantsnssv864998
Samples
Known GenesDBIL5P, FAM57A, GEMIN4, GLOD4, NXN, RNMTL1, VPS53
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574060
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