A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv312



Internal ID15545009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:84893657..84903746hg38UCSC Ensembl
Outerchr3:84942808..84952897hg19UCSC Ensembl
Outerchr3:85025498..85035587hg18UCSC Ensembl
Outerchr3:85025498..85035587hg17UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg3815027
hg1915027
hg1815027
hg1715027
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3901
Supporting Variants
SamplesNA19240
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)nssv312
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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