A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2694



Internal ID15195197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:39090985..39125155hg38UCSC Ensembl
Outerchr5:39091087..39125257hg19UCSC Ensembl
Outerchr5:39126844..39161014hg18UCSC Ensembl
Outerchr5:39126844..39161014hg17UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg385856
hg195856
hg185856
hg175856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4804
Supporting Variants
SamplesNA18555
Known GenesFYB
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)nssv2694
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