A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042184



Internal ID19131403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20190264..21078935hg38UCSC Ensembl
Innerchr15:20395517..21284264hg19UCSC Ensembl
Innerchr15:18655531..19548923hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38888672
hg19888748
hg18893393
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2189n100
Supporting Variantsnssv3716442, nssv3716443
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)nsv1042184
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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