A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3239



Internal ID15191281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:8943679..8947598hg38UCSC Ensembl
Outerchr1:9003738..9007657hg19UCSC Ensembl
Outerchr1:8926325..8930244hg18UCSC Ensembl
Outerchr1:8938004..8941923hg17UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg387536
hg197536
hg187536
hg177536
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1965
Supporting Variants
SamplesNA12878
Known GenesCA6
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)nssv3239
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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