A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10580



Internal ID15195532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:243820536..243852317hg38UCSC Ensembl
Outerchr1:243983838..244015619hg19UCSC Ensembl
Outerchr1:242050461..242082242hg18UCSC Ensembl
Outerchr1:240309879..240341660hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg387698
hg197698
hg187698
hg177698
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5132
Supporting Variants
SamplesNA18956
Known GenesAKT3
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)nssv10580
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