A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv784



Internal ID15197885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143051024..143085739hg38UCSC Ensembl
Outerchr8:144132441..144167156hg19UCSC Ensembl
Outerchr8:144203816..144238531hg18UCSC Ensembl
Outerchr8:144203816..144238531hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg386247
hg196247
hg186247
hg176247
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6437
Supporting Variants
SamplesNA19240
Known GenesC8orf31
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)nssv784
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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