A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1517



Internal ID15199394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:44662336..44697647hg38UCSC Ensembl
Outerchr15:44954534..44989845hg19UCSC Ensembl
Outerchr15:42741826..42777137hg18UCSC Ensembl
Outerchr15:42741826..42777137hg17UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg385686
hg195686
hg185686
hg175686
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1249
SamplesNA19240
Known GenesPATL2, SPG11
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)nsv1517
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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