A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4249



Internal ID15548939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:16763440..16795840hg38UCSC Ensembl
Outerchr4:16765063..16797463hg19UCSC Ensembl
Outerchr4:16374161..16406561hg18UCSC Ensembl
Outerchr4:16441332..16473732hg17UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg387039
hg197039
hg187039
hg177039
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7069
SamplesNA12156
Known GenesLDB2
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)nsv4249
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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