A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575092



Internal ID16362501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:44353748..44354844hg38UCSC Ensembl
Innerchr17:42431116..42432212hg19UCSC Ensembl
Innerchr17:39786642..39787738hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381097
hg191097
hg181097
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5608n54
Supporting Variantsnssv872228
Samples
Known GenesFAM171A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575092
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