A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012



Internal ID15545575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:39708089..39741903hg38UCSC Ensembl
Outerchr13:40282226..40316040hg19UCSC Ensembl
Outerchr13:39180226..39214040hg18UCSC Ensembl
Outerchr13:39180226..39214040hg17UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg385605
hg195605
hg185605
hg175605
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9116
SamplesNA12156
Known GenesCOG6
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)nsv1012
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