A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041809



Internal ID19131028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20190264..21096875hg38UCSC Ensembl
Innerchr15:20395517..21302204hg19UCSC Ensembl
Innerchr15:18655531..19566863hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38906612
hg19906688
hg18911333
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2189n100
Supporting Variantsnssv3538046, nssv3538045, nssv3716444, nssv3538044, nssv3716445, nssv3716446
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, 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)nsv1041809
Frequency
Sample Size11257
Observed Gain5
Observed Loss1
Observed Complex0
Frequencyn/a


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