A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574488



Internal ID16015211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:16491622..16492182hg38UCSC Ensembl
Innerchr17:16394936..16395496hg19UCSC Ensembl
Innerchr17:16335661..16336221hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38561
hg19561
hg18561
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5476n54
Supporting Variantsnssv868770, nssv868768, nssv868769, nssv868767, nssv868771
Samples
Known GenesFAM211A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574488
Frequency
Sample Size17421
Observed Gain2
Observed Loss3
Observed Complex0
Frequencyn/a


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