A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv275



Internal ID15383760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:119115873..119138967hg38UCSC Ensembl
Outerchr5:118451568..118474662hg19UCSC Ensembl
Outerchr5:118479467..118502561hg18UCSC Ensembl
Outerchr5:118479467..118502561hg17UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg388850
hg198850
hg188850
hg178850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv275
SamplesNA15510
Known GenesDMXL1
MethodSequencing
AnalysisFosmids were categorized as discordant if the in silico size was in excess of three standard deviations from the mean (<32 or 48> kb) and/or showed incorrect orientation of ends
PlatformCapillary
Comments
ReferenceTuzun_et_al_2005
Pubmed ID15895083
Accession Number(s)nsv275
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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