A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048245



Internal ID19137464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20056971..20942515hg38UCSC Ensembl
Innerchr15:20262224..21147844hg19UCSC Ensembl
Innerchr15:18522238..19412503hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38885545
hg19885621
hg18890266
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2189n100
Supporting Variantsnssv3538381, nssv3538382
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)nsv1048245
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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