A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118



Internal ID15545681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:91202231..91236391hg38UCSC Ensembl
Outerchr13:91854485..91888645hg19UCSC Ensembl
Outerchr13:90652486..90686646hg18UCSC Ensembl
Outerchr13:90652486..90686646hg17UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg385870
hg195870
hg185870
hg175870
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2907
SamplesNA18555
Known GenesLINC00379
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)nsv1118
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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