A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049792



Internal ID19139011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20207213..20644294hg38UCSC Ensembl
Innerchr15:20412466..20849596hg19UCSC Ensembl
Innerchr15:18672480..19109610hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38437082
hg19437131
hg18437131
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2207n100
Supporting Variantsnssv3538199
Samples
Known GenesCHEK2P2, GOLGA6L6, GOLGA8CP, HERC2P3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049792
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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