A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv815



Internal ID15544688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:87915998..87941613hg38UCSC Ensembl
Outerchr9:90530913..90556528hg19UCSC Ensembl
Outerchr9:89720733..89746348hg18UCSC Ensembl
Outerchr9:87760467..87786082hg17UCSC Ensembl
Cytoband9q22.1
Allele length
AssemblyAllele length
hg3813230
hg1913230
hg1813230
hg1713230
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6599
Supporting Variants
SamplesNA19240
Known GenesSPATA31C1
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)nssv815
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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