A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043783



Internal ID19133002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20078801..20744648hg38UCSC Ensembl
Innerchr15:20284054..20949977hg19UCSC Ensembl
Innerchr15:18544068..19209985hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38665848
hg19665924
hg18665918
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2195n100
Supporting Variantsnssv3715982
Samples
Known GenesCHEK2P2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043783
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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