A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7417



Internal ID15205738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:54369837..54533383hg38UCSC Ensembl
Outerchr8:55282397..55445943hg19UCSC Ensembl
Outerchr8:55444950..55608496hg18UCSC Ensembl
Outerchr8:55444950..55608496hg17UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38163547
hg19163547
hg18163547
hg17163547
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10622
SamplesNA18956
Known GenesSOX17
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)nsv7417
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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