A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv385



Internal ID15544982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:49250796..49320106hg38UCSC Ensembl
Outerchr4:49252813..49322123hg19UCSC Ensembl
Outerchr4:48947570..49016880hg18UCSC Ensembl
Outerchr4:49093741..49163051hg17UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3869311
hg1969311
hg1869311
hg1769311
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7360
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)nssv385
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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