A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575087



Internal ID16015810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:44350802..44355375hg38UCSC Ensembl
Innerchr17:42428170..42432743hg19UCSC Ensembl
Innerchr17:39783696..39788269hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg384574
hg194574
hg184574
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5606n54
Supporting Variantsnssv872221
Samples
Known GenesFAM171A2, GRN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575087
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