A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5137



Internal ID15544114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:140562135..140594698hg38UCSC Ensembl
Outerchr8:141572234..141604797hg19UCSC Ensembl
Outerchr8:141641416..141673979hg18UCSC Ensembl
Outerchr8:141641416..141673979hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg386720
hg196720
hg186720
hg176720
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6427
Supporting Variants
SamplesNA19129
Known GenesAGO2, RNU6-31P
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)nssv5137
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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