A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1178



Internal ID15545741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:108614183..108647644hg38UCSC Ensembl
Outerchr13:109266531..109299992hg19UCSC Ensembl
Outerchr13:108064532..108097993hg18UCSC Ensembl
Outerchr13:108064532..108097993hg17UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg387534
hg197534
hg187534
hg177534
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1170
SamplesNA19240
Known GenesMYO16
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)nsv1178
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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