A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2030



Internal ID15541313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:40401320..40434515hg38UCSC Ensembl
Outerchr13:40975457..41008652hg19UCSC Ensembl
Outerchr13:39873457..39906652hg18UCSC Ensembl
Outerchr13:39873457..39906652hg17UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg386830
hg196830
hg186830
hg176830
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1013
Supporting Variants
SamplesNA18555
Known GenesLINC00598
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)nssv2030
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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