A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5084



Internal ID15544178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:246814476..246822187hg38UCSC Ensembl
Outerchr1:246977778..246985489hg19UCSC Ensembl
Outerchr1:245044401..245052112hg18UCSC Ensembl
Outerchr1:243303819..243311530hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3818112
hg1918112
hg1818112
hg1718112
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5265
Supporting Variants
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)nssv5084
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer