A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049847



Internal ID19139066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20011690..20368091hg38UCSC Ensembl
Innerchr15:20216943..20573344hg19UCSC Ensembl
Innerchr15:18476957..18833358hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38356402
hg19356402
hg18356402
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2180n100
Supporting Variantsnssv3715731
Samples
Known GenesCHEK2P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049847
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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