A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5839



Internal ID15550688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:92123796..92150740hg38UCSC Ensembl
Outerchr7:91753110..91780054hg19UCSC Ensembl
Outerchr7:91591046..91617990hg18UCSC Ensembl
Outerchr7:91397761..91424705hg17UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg3812317
hg1912317
hg1812317
hg1712317
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10564
SamplesNA18956
Known GenesCYP51A1, LRRD1
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)nsv5839
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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