A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7590



Internal ID15552615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:29509804..29541381hg38UCSC Ensembl
Outerchr1:29836316..29867893hg19UCSC Ensembl
Outerchr1:29708903..29740480hg18UCSC Ensembl
Outerchr1:29656932..29688509hg17UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg387708
hg197708
hg187708
hg177708
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5449
SamplesNA19129
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)nsv7590
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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