A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4090



Internal ID15538817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:106759217..106788040hg38UCSC Ensembl
Outerchr13:107411565..107440388hg19UCSC Ensembl
Outerchr13:106209566..106238389hg18UCSC Ensembl
Outerchr13:106209566..106238389hg17UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg385245
hg195245
hg185245
hg175245
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1173
Supporting Variants
SamplesNA12878
Known Genes
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)nssv4090
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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