A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575352



Internal ID16016075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46368159..46481604hg38UCSC Ensembl
Innerchr17:44445525..44558970hg19UCSC Ensembl
Innerchr17:41801275..41914286hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38113446
hg19113446
hg18113012
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5645n54
Supporting Variantsnssv872765, nssv872766
Samples
Known GenesNSFP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575352
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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