A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4069



Internal ID15192110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:49164569..49199623hg38UCSC Ensembl
Outerchr13:49738705..49773759hg19UCSC Ensembl
Outerchr13:48636706..48671760hg18UCSC Ensembl
Outerchr13:48636706..48671760hg17UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg384673
hg194673
hg184673
hg174673
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1036
Supporting Variants
SamplesNA12878
Known GenesFNDC3A
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)nssv4069
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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