A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047980



Internal ID19137199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20380723..20934206hg38UCSC Ensembl
Innerchr15:20585976..21139535hg19UCSC Ensembl
Innerchr15:18845990..19404194hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38553484
hg19553560
hg18558205
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2246n100
Supporting Variantsnssv3537267, nssv3537268
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)nsv1047980
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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