A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050213



Internal ID19139432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20351177..22023848hg38UCSC Ensembl
Innerchr15:20556430..22311799hg19UCSC Ensembl
Innerchr15:18816444..19813163hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381672672
hg191755370
hg18996720
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2250n100
Supporting Variantsnssv3536356, nssv3536357, nssv3713768
Samples
Known GenesCT60, 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)nsv1050213
Frequency
Sample Size11257
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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