A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051596



Internal ID19140815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20056971..20538504hg38UCSC Ensembl
Innerchr15:20262224..20743782hg19UCSC Ensembl
Innerchr15:18522238..19003796hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38481534
hg19481559
hg18481559
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2186n100
Supporting Variantsnssv3715853, nssv3715854
Samples
Known GenesCHEK2P2, GOLGA6L6, HERC2P3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051596
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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