A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048522



Internal ID19137741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19989473..22283866hg38UCSC Ensembl
Innerchr15:20194726..22571817hg19UCSC Ensembl
Innerchr15:18454740..20073181hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382294394
hg192377092
hg181618442
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2181n100
Supporting Variantsnssv3715702
Samples
Known GenesCHEK2P2, CT60, 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)nsv1048522
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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