A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048696



Internal ID19137915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20210878..20538504hg38UCSC Ensembl
Innerchr15:20416131..20743782hg19UCSC Ensembl
Innerchr15:18676145..19003796hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38327627
hg19327652
hg18327652
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2206n100
Supporting Variantsnssv3538213
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)nsv1048696
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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