A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3346



Internal ID15538074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:38983778..39018208hg38UCSC Ensembl
Outerchr5:38983880..39018310hg19UCSC Ensembl
Outerchr5:39019637..39054067hg18UCSC Ensembl
Outerchr5:39019637..39054067hg17UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg385318
hg195318
hg185318
hg175318
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4802
Supporting Variants
SamplesNA12878
Known GenesRICTOR
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)nssv3346
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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