A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8198



Internal ID15535666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:174094114..174138881hg38UCSC Ensembl
Outerchr5:173521117..173565884hg19UCSC Ensembl
Outerchr5:173453723..173498490hg18UCSC Ensembl
Outerchr5:173453723..173498490hg17UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3844768
hg1944768
hg1844768
hg1744768
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5137
Supporting Variants
SamplesNA12156
Known GenesHMP19
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)nssv8198
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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