A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513636



Internal ID15853057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:43593679..43596153hg38UCSC Ensembl
Outerchr1:44059350..44061824hg19UCSC Ensembl
Outerchr1:43831937..43834411hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg382475
hg192475
hg182475
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626888
Samples1
Known GenesPTPRF
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513636
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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