A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv951



Internal ID15206286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:20753248..20779879hg38UCSC Ensembl
Outerchr13:21327387..21354018hg19UCSC Ensembl
Outerchr13:20225387..20252018hg18UCSC Ensembl
Outerchr13:20225387..20252018hg17UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg3812632
hg1912632
hg1812632
hg1712632
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5466
SamplesNA19129
Known GenesN6AMT2, XPO4
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)nsv951
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