A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2901



Internal ID15194970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:41196977..41229583hg38UCSC Ensembl
Outerchr13:41771113..41803719hg19UCSC Ensembl
Outerchr13:40669113..40701719hg18UCSC Ensembl
Outerchr13:40669113..40701719hg17UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg386109
hg196109
hg186109
hg176109
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1014
Supporting Variants
SamplesNA18555
Known GenesMTRF1
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)nssv2901
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