A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049794



Internal ID19139013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20190264..20934206hg38UCSC Ensembl
Innerchr15:20395517..21139535hg19UCSC Ensembl
Innerchr15:18655531..19404194hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38743943
hg19744019
hg18748664
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2211n100
Supporting Variantsnssv3716440, nssv3538031
Samples
Known GenesCHEK2P2, 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)nsv1049794
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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