A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040056



Internal ID19129275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20404354..21096875hg38UCSC Ensembl
Innerchr15:20609607..21302204hg19UCSC Ensembl
Innerchr15:18869621..19566863hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38692522
hg19692598
hg18697243
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2246n100
Supporting Variantsnssv3714805, nssv3540839
Samples
Known GenesCT60, 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)nsv1040056
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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