A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6171



Internal ID15204368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:42853461..42887332hg38UCSC Ensembl
Outerchr8:42708604..42742475hg19UCSC Ensembl
Outerchr8:42827761..42861632hg18UCSC Ensembl
Outerchr8:42827761..42861632hg17UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg387124
hg197124
hg187124
hg177124
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv727
SamplesNA19240
Known GenesRNF170
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)nsv6171
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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