A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050283



Internal ID19139502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20056971..20364686hg38UCSC Ensembl
Innerchr15:20262224..20569939hg19UCSC Ensembl
Innerchr15:18522238..18829953hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38307716
hg19307716
hg18307716
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2197n100
Supporting Variantsnssv3538286
Samples
Known GenesCHEK2P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050283
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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