A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4491



Internal ID8516188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:120890178..120924756hg38UCSC Ensembl
Outerchr4:121811333..121845911hg19UCSC Ensembl
Outerchr4:122030783..122065361hg18UCSC Ensembl
Outerchr4:122168938..122203516hg17UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg386408
hg196408
hg186408
hg176408
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv412
SamplesNA19240
Known GenesPRDM5
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)nsv4491
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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