A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048974



Internal ID19138193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20078801..22142122hg38UCSC Ensembl
Innerchr15:20284054..22430073hg19UCSC Ensembl
Innerchr15:18544068..19931437hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382063322
hg192146020
hg181387370
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2181n100
Supporting Variantsnssv3716009
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, 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)nsv1048974
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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