A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1343



Internal ID15197688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:9070223..9073722hg38UCSC Ensembl
Outerchr17:8973540..8977039hg19UCSC Ensembl
Outerchr17:8914265..8917764hg18UCSC Ensembl
Outerchr17:8914265..8917764hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3822538
hg1922538
hg1822538
hg1722538
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1971
Supporting Variants
SamplesNA19240
Known GenesNTN1
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)nssv1343
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