A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10020



Internal ID15196091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:70165006..70197290hg38UCSC Ensembl
Outerchr14:70631723..70664007hg19UCSC Ensembl
Outerchr14:69701476..69733760hg18UCSC Ensembl
Outerchr14:69701476..69733760hg17UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg387217
hg197217
hg187217
hg177217
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1338
Supporting Variants
SamplesNA18956
Known GenesSLC8A3
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)nssv10020
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