A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575098



Internal ID16362507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:44353975..44355095hg38UCSC Ensembl
Innerchr17:42431343..42432463hg19UCSC Ensembl
Innerchr17:39786869..39787989hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381121
hg191121
hg181121
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5609n54
Supporting Variantsnssv872236
Samples
Known GenesFAM171A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575098
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