A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052870



Internal ID19142089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20283071..20422227hg38UCSC Ensembl
Innerchr15:20488324..20627480hg19UCSC Ensembl
Innerchr15:18748338..18887494hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38139157
hg19139157
hg18139157
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2227n100
Supporting Variantsnssv3534916, nssv3534915, nssv3534917
Samples
Known GenesCHEK2P2, HERC2P3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052870
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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