A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1098



Internal ID15198975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:78622118..78655578hg38UCSC Ensembl
Outerchr13:79196253..79229713hg19UCSC Ensembl
Outerchr13:78094254..78127714hg18UCSC Ensembl
Outerchr13:78094254..78127714hg17UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg385976
hg195976
hg185976
hg175976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9141
SamplesNA12156
Known GenesRNF219
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)nsv1098
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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