A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046940



Internal ID19136159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20217113..20609659hg38UCSC Ensembl
Innerchr15:20422366..20814965hg19UCSC Ensembl
Innerchr15:18682380..19074979hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38392547
hg19392600
hg18392600
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2217n100
Supporting Variantsnssv3716526
Samples
Known GenesCHEK2P2, GOLGA6L6, GOLGA8CP, HERC2P3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046940
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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