A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6138



Internal ID15551017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:30084206..30118638hg38UCSC Ensembl
Outerchr8:29941722..29976154hg19UCSC Ensembl
Outerchr8:30061264..30095696hg18UCSC Ensembl
Outerchr8:30061264..30095696hg17UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg385588
hg195588
hg185588
hg175588
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2785
SamplesNA18555
Known GenesLEPROTL1, MIR548O2
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)nsv6138
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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