A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1503



Internal ID15546066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:39982403..40014887hg38UCSC Ensembl
Outerchr15:40274604..40307088hg19UCSC Ensembl
Outerchr15:38061896..38094380hg18UCSC Ensembl
Outerchr15:38061896..38094380hg17UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg387022
hg197022
hg187022
hg177022
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10045
SamplesNA18956
Known GenesEIF2AK4
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)nsv1503
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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