A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7308



Internal ID15552304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:49687640..49693592hg38UCSC Ensembl
Outerchr19:50190897..50196849hg19UCSC Ensembl
Outerchr19:54882709..54888661hg18UCSC Ensembl
Outerchr19:54882709..54888661hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg385953
hg195953
hg185953
hg175953
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10193
SamplesNA18956
Known GenesADM5, CPT1C, PRMT1
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)nsv7308
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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