A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5542



Internal ID15543915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:25377099..25406853hg38UCSC Ensembl
Outerchr15:25622246..25652000hg19UCSC Ensembl
Outerchr15:23173339..23203093hg18UCSC Ensembl
Outerchr15:23173339..23203093hg17UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg389528
hg199528
hg189528
hg179528
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1468
Supporting Variants
SamplesNA19129
Known GenesUBE3A
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv5542
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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