A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv313



Internal ID15545011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:89595250..89646383hg38UCSC Ensembl
Outerchr3:89644400..89695533hg19UCSC Ensembl
Outerchr3:89727090..89778223hg18UCSC Ensembl
Outerchr3:89727090..89778223hg17UCSC Ensembl
Cytoband3p11.1
Allele length
AssemblyAllele length
hg3851134
hg1951134
hg1851134
hg1751134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3909
Supporting Variants
SamplesNA19240
Known Genes
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)nssv313
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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