A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv787



Internal ID15197918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144012529..144043657hg38UCSC Ensembl
Outerchr8:145086697..145098558hg19UCSC Ensembl
Outerchr8:145158685..145170546hg18UCSC Ensembl
Outerchr8:145158685..145170546hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3818789
hg1918789
hg1818789
hg1718789
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6446
Supporting Variants
SamplesNA19240
Known GenesSPATC1
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)nssv787
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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