A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046043



Internal ID18788574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20305889..22308242hg38UCSC Ensembl
Innerchr15:20511142..22673387hg19UCSC Ensembl
Innerchr15:18771156..20224751hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382002354
hg192162246
hg181453596
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2179n100
Supporting Variantsnssv3713712
Samples
Known GenesCT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046043
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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