A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6434



Internal ID15551343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141616258..141657501hg38UCSC Ensembl
Outerchr8:142626358..142667601hg19UCSC Ensembl
Outerchr8:142695540..142736783hg18UCSC Ensembl
Outerchr8:142695540..142736783hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg384748
hg194748
hg184748
hg174748
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv781, nssv3696
SamplesNA12878, NA19240
Known Genes
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)nsv6434
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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