A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049307



Internal ID19138526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20199589..20952464hg38UCSC Ensembl
Innerchr15:20404842..21157793hg19UCSC Ensembl
Innerchr15:18664856..19422452hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38752876
hg19752952
hg18757597
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2211n100
Supporting Variantsnssv3716503
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, 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)nsv1049307
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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