A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv725



Internal ID15198686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:27871148..27903953hg38UCSC Ensembl
Outerchr8:27728665..27761470hg19UCSC Ensembl
Outerchr8:27784584..27817389hg18UCSC Ensembl
Outerchr8:27784584..27817389hg17UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg388194
hg198194
hg188194
hg178194
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6133
Supporting Variants
SamplesNA19240
Known GenesMIR4287, SCARA5
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)nssv725
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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