A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045988



Internal ID19135207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20056971..22033266hg38UCSC Ensembl
Innerchr15:20262224..22321217hg19UCSC Ensembl
Innerchr15:18522238..19822581hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381976296
hg192058994
hg181300344
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2190n100
Supporting Variantsnssv3538408, nssv3538407, nssv3715876
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, POTEB, POTEB2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045988
Frequency
Sample Size11257
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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