A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048994



Internal ID19138213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20086048..21005431hg38UCSC Ensembl
Innerchr15:20291301..21210760hg19UCSC Ensembl
Innerchr15:18551315..19475419hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38919384
hg19919460
hg18924105
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2182n100
Supporting Variantsnssv3537919, nssv3537920
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)nsv1048994
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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