A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2969



Internal ID15541581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:49860118..49894155hg38UCSC Ensembl
Outerchr17:47937481..47971518hg19UCSC Ensembl
Outerchr17:45292480..45326517hg18UCSC Ensembl
Outerchr17:45292480..45326517hg17UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg385988
hg195988
hg185988
hg175988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2079
Supporting Variants
SamplesNA18555
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)nssv2969
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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