A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5069



Internal ID15203155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:151678840..151711904hg38UCSC Ensembl
Outerchr5:151058401..151091465hg19UCSC Ensembl
Outerchr5:151038594..151071658hg18UCSC Ensembl
Outerchr5:151038594..151071658hg17UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg386376
hg196376
hg186376
hg176376
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8168
SamplesNA12156
Known GenesSPARC
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)nsv5069
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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