A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4462



Internal ID15549174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:109517319..109551480hg38UCSC Ensembl
Outerchr4:110438475..110472636hg19UCSC Ensembl
Outerchr4:110657924..110692085hg18UCSC Ensembl
Outerchr4:110796079..110830240hg17UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg385274
hg195274
hg185274
hg175274
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7988
SamplesNA12156
Known GenesSEC24B
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)nsv4462
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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