A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574276



Internal ID16014999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4975665..5043030hg38UCSC Ensembl
Innerchr17:4878960..4946325hg19UCSC Ensembl
Innerchr17:4819684..4887049hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3867366
hg1967366
hg1867366
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5431n54
Supporting Variantsnssv866563
Samples
Known GenesCAMTA2, INCA1, KIF1C, SLC52A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574276
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