A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003



Internal ID15545566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:36412684..36423477hg38UCSC Ensembl
Outerchr13:36986821..36997614hg19UCSC Ensembl
Outerchr13:35884821..35895614hg18UCSC Ensembl
Outerchr13:35884821..35895614hg17UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg385326
hg195326
hg185326
hg175326
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4065
SamplesNA12878
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)nsv1003
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