A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049317



Internal ID19138536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20190264..20689298hg38UCSC Ensembl
Innerchr15:20395517..20894627hg19UCSC Ensembl
Innerchr15:18655531..19190690hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38499035
hg19499111
hg18535160
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2209n100
Supporting Variantsnssv3538027, nssv3538026
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)nsv1049317
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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