A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6134



Internal ID15204327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:28294984..28330125hg38UCSC Ensembl
Outerchr8:28152501..28187642hg19UCSC Ensembl
Outerchr8:28208420..28243561hg18UCSC Ensembl
Outerchr8:28208420..28243561hg17UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg384610
hg194610
hg184610
hg174610
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3638
SamplesNA12878
Known GenesPNOC
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)nsv6134
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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