A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051224



Internal ID19140443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20283071..20512131hg38UCSC Ensembl
Innerchr15:20488324..20717374hg19UCSC Ensembl
Innerchr15:18748338..18977388hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38229061
hg19229051
hg18229051
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2221n100
Supporting Variantsnssv3534921, nssv3534920
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)nsv1051224
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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