A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044942



Internal ID19134161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20248994..22053726hg38UCSC Ensembl
Innerchr15:20454247..22341677hg19UCSC Ensembl
Innerchr15:18714261..19843041hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381804733
hg191887431
hg181128781
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2214n100
Supporting Variantsnssv3534826
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, 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)nsv1044942
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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