A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv371



Internal ID15198169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:13589327..13622398hg38UCSC Ensembl
Outerchr4:13590951..13624022hg19UCSC Ensembl
Outerchr4:13200049..13233120hg18UCSC Ensembl
Outerchr4:13267220..13300291hg17UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg387916
hg197916
hg187916
hg177916
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4239
Supporting Variants
SamplesNA19240
Known GenesBOD1L1
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)nssv371
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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