A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044717



Internal ID19133936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20384762..20936927hg38UCSC Ensembl
Innerchr15:20590015..21142256hg19UCSC Ensembl
Innerchr15:18850029..19406915hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38552166
hg19552242
hg18556887
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2237n100
Supporting Variantsnssv3714774
Samples
Known GenesCXADRP2, 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)nsv1044717
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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