A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1036180



Internal ID18778711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:25432337..25463632hg38UCSC Ensembl
Innerchr15:25677484..25708779hg19UCSC Ensembl
Innerchr15:23228577..23259872hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3831296
hg1931296
hg1831296
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3545629
Samples
Known GenesUBE3A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1036180
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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