A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575117



Internal ID16015840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45513706..45518744hg38UCSC Ensembl
Innerchr17:43591072..43596110hg19UCSC Ensembl
Innerchr17:40946855..40951893hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg385039
hg195039
hg185039
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5613n54
Supporting Variantsnssv872258, nssv872257
Samples
Known GenesLRRC37A4P
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575117
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